AHCY: Encodes the enzyme adenosylhomocysteinase, which plays a central role in the conversion of S-adenosylhomocysteine to homocysteine, a critical step in the body's methylation processes and detoxification....



AHCY

MTRR (Methionine Synthase Reductase): MTRR is crucial for regenerating methylcobalamin, ensuring the continuous function of MTR in homocysteine metabolism. It plays a key role in maintaining adequate methionine levels and supports normal DNA synthesis. MTRR mutations are associated with homocystinuria, which can lead to developmental and neurological issues. Insights into MTRR function offer potential for genetic disorder therapies....



MTRR

SMARCA2 (SWI/SNF-Related, Matrix-Associated, Actin-Dependent Regulator of Chromatin, Subfamily A, Member 2): SMARCA2 is a core component of the SWI/SNF chromatin remodeling complex, playing a pivotal role in regulating gene expression by altering chromatin structure. Mutations in SMARCA2 are associated with disorders like Nicolaides-Baraitser syndrome, characterized by intellectual disability and sparse hair. Its function is critical for proper gene regulation and development....



SMARCA2

FANCA (Fanconi anemia group A protein): FANCA is a critical component of the Fanconi anemia (FA) pathway, a DNA repair mechanism essential for maintaining genomic stability and preventing chromosomal instability. This protein is involved in the activation of the FA core complex, which functions in the recognition and repair of DNA interstrand crosslinks (ICLs). ICLs are highly toxic DNA lesions that can block DNA replication and transcription, leading to genome instability and cell death if left unrepaired. FANCA plays a pivotal role in coordinating the assembly of the FA core complex and its recruitment to sites of DNA damage, where...



FANCA

PLTP (Phospholipid Transfer Protein): PLTP, also known as phospholipid transfer protein, is a key player in lipid metabolism and lipid transport processes within the body. It facilitates the transfer of phospholipids, such as phosphatidylcholine and phosphatidylethanolamine, between different lipoprotein particles, thereby regulating their composition and metabolism. PLTP plays a crucial role in the maintenance of plasma lipoprotein homeostasis, influencing the size, composition, and functionality of various lipoprotein fractions, including high-density lipoproteins (HDL) and low-density lipoproteins (LDL). Its activity is essential for processes like reverse cholesterol transport, which removes excess cholesterol from peripheral tissues and delivers it to the liver for...



PLTP

SOAT2 (Sterol O-Acyltransferase 2): SOAT2, a member of the sterol O-acyltransferase family, is a crucial enzyme involved in lipid metabolism, particularly in the esterification of cholesterol. This enzyme plays a significant role in the regulation of cellular cholesterol levels by converting free cholesterol into cholesterol esters, which are stored in lipid droplets or incorporated into lipoproteins for transportation. SOAT2 is primarily expressed in tissues involved in lipid metabolism, such as the liver, intestine, and macrophages. Its activity is tightly regulated and responsive to cellular cholesterol levels, serving as a key mechanism to prevent cholesterol toxicity and maintain lipid homeostasis. Dysregulation...



SOAT2

SLC1A7 (Solute Carrier Family 1 Member 7): SLC1A7 is a high-affinity glutamate transporter, primarily involved in the clearance of glutamate from the synaptic cleft. Its role is crucial in preventing excitotoxicity, a condition where excessive glutamate causes neuronal damage. While less studied than other glutamate transporters, SLC1A7 contributes to the regulation of glutamatergic signaling, with potential implications for neurological conditions characterized by dysregulated glutamate neurotransmission....



SLC1A7

SLC22A5 (Solute Carrier Family 22 Member 5): SLC22A5, also known as OCTN2, is a crucial carnitine transporter, responsible for the cellular uptake of carnitine, a necessary compound for the transport of fatty acids into mitochondria for oxidation. This process is vital for energy production in various tissues, especially the heart and muscles. Mutations in the SLC22A5 gene can lead to primary carnitine deficiency, a condition characterized by muscle weakness and cardiomyopathy, underscoring its essential role in metabolic health and energy homeostasis....



SLC22A5

VEGFC, or Vascular Endothelial Growth Factor C, is a crucial protein involved in the regulation of lymphangiogenesis, the formation of lymphatic vessels, and angiogenesis, the formation of blood vessels. As a member of the vascular endothelial growth factor (VEGF) family, VEGFC plays diverse roles in physiological and pathological processes, including embryonic development, tissue repair, and tumor progression. One of the primary functions of VEGFC is its ability to stimulate the growth and proliferation of lymphatic endothelial cells, promoting the formation and remodeling of lymphatic vessels. VEGFC binds to and activates its receptors, primarily VEGFR-3 (vascular endothelial growth factor receptor 3), initiating...



VEGFC

EDA2R, also known as Ectodysplasin A2 receptor, is a protein encoded by the EDA2R gene. It belongs to the tumor necrosis factor receptor (TNFR) superfamily and serves as a receptor for ectodysplasin A2 (EDA-A2), a signaling molecule involved in the development of ectodermal tissues such as hair, teeth, and sweat glands. One of the primary functions of EDA2R is its role in mediating the effects of EDA-A2 signaling during embryonic development. EDA-A2, also known as ectodysplasin A2 or EDA2, is a ligand that binds to EDA2R, initiating signaling cascades that regulate the formation and patterning of ectodermal structures. This signaling pathway...



EDA2R

ITGA4 (Integrin Subunit Alpha 4): ITGA4 is a cell adhesion molecule involved in leukocyte migration and immune responses. It's crucial for the immune system's ability to reach sites of inflammation. Dysregulation of ITGA4 can lead to autoimmune disorders and impacts the efficacy of immune responses....

ITGA4

JAK2 (Janus Kinase 2): JAK2 is a gene encoding a kinase enzyme that is part of the Janus kinase (JAK) family. JAK2 is involved in cytokine signaling pathways and is crucial for the activation of immune and hematopoietic cells. Mutations in JAK2 are associated with blood disorders such as polycythemia vera and myeloproliferative neoplasms....

JAK2

JAML (Junctional Adhesion Molecule Like): JAML is a cell adhesion molecule that plays a crucial role in the regulation of leukocyte transmigration across epithelial and endothelial barriers, a key process in the immune response to tissue injury and infection. It is involved in mediating cell-cell interactions that facilitate the movement of immune cells from the bloodstream into tissues. JAML's function is important for understanding inflammatory responses and the mechanisms of immune surveillance, making it a potential target for therapeutic intervention in inflammatory diseases and immune disorders....

JAML

LPP (LIM Domain Containing Preferred Translocation Partner In Lipoma): LPP plays a role in cell adhesion, migration, and organization of the actin cytoskeleton. It is involved in the formation of focal adhesions and stress fibers, linking the cytoskeleton to the extracellular matrix. This gene's function is crucial for the regulation of cell movement and the maintenance of cellular structure. Alterations in LPP have been implicated in the development of lipomas and other tumors, highlighting its importance in cell biology and cancer research....

MFSD10 (Major Facilitator Superfamily Domain-Containing Protein 10): MFSD10 is a gene that encodes a protein involved in transport processes across cell membranes. The specific function of MFSD10 is still being investigated, but it may play a role in nutrient transport and cellular homeostasis....

MFSD10 

MS4A13 (Membrane Spanning 4-Domains A13): MS4A13 is part of the MS4A gene family, which is involved in signal transduction and cellular activation. The specific role of MS4A13 is not well understood, but members of this family are important in immune responses and in the pathogenesis of diseases like Alzheimer's....



MS4A13

MYH11 (Myosin Heavy Chain 11): MYH11 encodes a smooth muscle myosin heavy chain, a key component of the contractile apparatus in smooth muscle cells. This protein plays a pivotal role in the contraction and relaxation of smooth muscle fibers, which is fundamental to various physiological processes, including vascular regulation, gastrointestinal motility, and respiratory function. MYH11 is essential for maintaining the structural integrity and function of smooth muscle tissues across the body. Mutations or dysregulation in the MYH11 gene can lead to a range of vascular disorders, including thoracic aortic aneurysms and dissections, highlighting its critical role in vascular health. The...



MYH11

SLC25A2 (Solute Carrier Family 25 Member 2): SLC25A2 encodes a member of the solute carrier family of mitochondrial transport proteins, specifically involved in the transport of ornithine across the mitochondrial membrane. This process is crucial in the urea cycle and amino acid metabolism. Dysfunctions in this gene can lead to metabolic disorders, highlighting its importance in understanding metabolic pathways and potential therapeutic targets for related diseases....

2SLC25A2

ABCG5 (ATP Binding Cassette Subfamily G Member 5): ABCG5 is part of the ATP-binding cassette transporter family and plays a crucial role in the regulation of dietary cholesterol. It functions in tandem with another gene, ABCG8, to limit intestinal absorption and promote the excretion of sterols from the body. Mutations in ABCG5 are associated with sitosterolemia, a rare disorder characterized by high levels of plant sterols in blood, leading to atherosclerosis and other cardiovascular issues....

ABCG5

ABT1, also known as Activator of Basal Transcription 1, is a protein that plays a critical role in the regulation of gene expression by promoting the initiation of transcription. It is a component of the RNA polymerase I (Pol I) transcription machinery, which is responsible for transcribing ribosomal RNA (rRNA) genes to generate ribosomal RNA transcripts. One of the primary functions of ABT1 is its role as a transcription factor that binds to specific DNA sequences within the promoter regions of rRNA genes. By binding to these promoter sequences, ABT1 recruits other transcription factors and the RNA polymerase I complex to...

ABT1

ACKR1 (Atypical Chemokine Receptor 1): ACKR1, formerly known as Duffy antigen receptor for chemokines (DARC), acts as a decoy receptor that binds chemokines without signaling. It modulates the immune response by sequestering chemokines, affecting leukocyte migration. ACKR1 is also known for its role in malaria resistance, as it serves as a receptor for Plasmodium vivax. Variations in ACKR1 can influence susceptibility to infection and autoimmune diseases, highlighting its role in immunity and disease....

ACKR1

ADAL (Adenosine Deaminase-Like): ADAL is a protein similar to adenosine deaminase, which is involved in purine metabolism. It plays a role in the breakdown of adenosine, an important molecule for energy transfer and signaling in cells. ADAL's function in adenosine metabolism is critical for maintaining cellular energy balance and nucleotide pool homeostasis....

ADAL

ADAMTS16 (ADAM Metallopeptidase with Thrombospondin Type 1 Motif, 16): ADAMTS16 is an enzyme involved in the cleavage of extracellular matrix components. It plays a role in tissue remodeling and development. Dysregulation of ADAMTS16 has been associated with various conditions, including kidney and cardiovascular diseases, and it may have implications in fertility....

ADAMTS16

ADARB2 (Adenosine Deaminase RNA-Specific B2): ADARB2 is an enzyme that belongs to the adenosine deaminase family and is involved in RNA editing. It specifically deaminates adenosine to inosine in RNA molecules, leading to alterations in RNA sequences. This post-transcriptional modification can impact the structure and function of RNA, potentially influencing various cellular processes and gene expression regulation....




ADARB2

ADH1B (Alcohol Dehydrogenase 1B): ADH1B is involved in the initial step of alcohol metabolism, converting ethanol to acetaldehyde. Genetic variations in ADH1B can affect the rate of alcohol metabolism, influencing alcohol tolerance and susceptibility to alcohol-related diseases....

ADH1B

ADRA1A (Adrenoceptor Alpha 1A): ADRA1A is a subtype of the alpha-1-adrenergic receptors, involved in the physiological responses to adrenaline and noradrenaline, particularly in smooth muscle contraction. It plays a role in cardiovascular function, including blood pressure regulation and vascular tone. Abnormalities in ADRA1A can have implications in cardiovascular diseases and disorders of the autonomic nervous system....

ADRA1A

ADRA2A (Alpha-2 Adrenergic Receptor 2A): ADRA2A encodes a protein called alpha-2 adrenergic receptor 2A, which is a member of the G protein-coupled receptor family. It plays a crucial role in regulating the response to the neurotransmitter norepinephrine. ADRA2A is involved in various physiological processes, including blood pressure regulation, vasoconstriction, and the fight-or-flight response....

ADRA2A

ADRB2 (Adrenoceptor Beta 2): ADRB2 encodes the beta-2-adrenergic receptor, which is involved in the 'fight or flight' response. It mediates smooth muscle relaxation in the airways and blood vessels and is a target for drugs treating asthma and COPD. Genetic variations in ADRB2 can affect an individual's response to these medications....

ADRB2

ADRB3 (Adrenoceptor Beta 3): ADRB3 is a gene that encodes a beta-adrenergic receptor, primarily found in adipose tissue. It's involved in the regulation of lipolysis and thermogenesis, playing a significant role in energy expenditure and obesity. Variants of this gene have been studied for their potential impact on obesity and metabolic disorders....

ADRB3

AK9 (Adenylate Kinase 9): Adenylate Kinase 9, also known as AK9, is a member of the adenylate kinase family, which catalyzes the reversible transfer of phosphate groups between adenine nucleotides, primarily ATP and AMP. AK9 specifically localizes to the mitochondria, where it plays a crucial role in energy metabolism and nucleotide homeostasis. By facilitating the interconversion of ATP and AMP, AK9 contributes to the regulation of cellular energy levels and the maintenance of adenine nucleotide balance. This enzyme is implicated in various cellular processes, including mitochondrial biogenesis, apoptosis, and stress response pathways. Dysregulation of AK9 has been linked to metabolic...

AKR1E2 (Aldo-Keto Reductase Family 1 Member E2): AKR1E2 is part of the aldo-keto reductase family, which is involved in the detoxification of aldehydes and ketones. The specific function of AKR1E2 is not fully understood, but members of this family play roles in metabolism and the response to oxidative stress. Research into AKR1E2 could provide insights into metabolic disorders and cellular responses to environmental stressors....




AKR1E2

ALDH7A1 (Aldehyde Dehydrogenase 7 Family Member A1): ALDH7A1 is involved in the metabolism of aldehydes and is essential for the detoxification of pyridoxal-5'-phosphate, a form of vitamin B6. Deficiency in ALDH7A1 leads to pyridoxine-dependent epilepsy, a condition where seizures are caused by an abnormality in lysine metabolism and are responsive to vitamin B6 treatment....

ALDH7A1

ALX4 (ALX Homeobox 4): ALX4 is a transcription factor involved in skull and limb development. Mutations in this gene can lead to craniofacial malformations and skeletal abnormalities, highlighting its importance in bone development and morphogenesis....

ALX4

ANKK1 (Ankyrin Repeat and Kinase Domain Containing 1): ANKK1 is involved in signal transduction and potentially in the regulation of dopamine receptors, which are important for brain function. Variants near the ANKK1 gene have been linked to neuropsychiatric disorders and addiction, possibly due to their influence on dopamine signaling....

ANKK1

APEH (Acylaminoacyl-Peptide Hydrolase): APEH is an enzyme that degrades acetylated peptides, playing a role in protein turnover and degradation. It's involved in the processing of damaged or misfolded proteins, thereby maintaining protein homeostasis. Dysfunctions in APEH have implications in neurodegenerative diseases and in the response to oxidative stress....

APEH

AR (Androgen Receptor): AR is a nuclear receptor protein that binds to androgens (male sex hormones) and plays a central role in male sexual development and function. It is involved in regulating the development of male secondary sexual characteristics and is the target of androgen-based therapies. Mutations in the AR gene can lead to various androgen-related disorders....


ARAP2 (ArfGAP With RhoGAP Domain, Ankyrin Repeat, and PH Domain 2): ARAP2 is involved in cell signaling pathways, acting as a GTPase-activating protein for Arf and Rho family members. It's important for cell migration and cytoskeletal organization, with potential implications in cancer metastasis and cellular morphology....

ARAP2

CLOCK (Circadian Locomotor Output Cycles Kaput): The CLOCK gene is fundamental in the regulation of circadian rhythms, which are the physical, mental, and behavioral changes following a 24-hour cycle. It is involved in the control of sleep-wake cycles and various physiological processes including metabolism. Mutations in the CLOCK gene can disrupt normal circadian rhythms, leading to various health issues such as sleep disorders, metabolic syndrome, and mood disturbances....

CLOCK

ARHGAP27 (Rho GTPase Activating Protein 27): ARHGAP27 plays a role in actin cytoskeleton remodeling, cell morphology, and motility through its regulation of Rho GTPases. These GTPases are key regulators of cellular processes such as vesicle trafficking, cell cycle progression, and gene transcription. ARHGAP27's function in modulating cell adhesion and migration is particularly relevant in tissue development and wound healing, as well as in tumor progression and metastasis....




ARHGAP27

C-reactive protein (CRP) testing measures the level of CRP in the blood, an indicator of inflammation in the body. Elevated CRP levels can signal acute inflammations, infections, and chronic diseases such as rheumatoid arthritis or heart disease. This test is commonly used to diagnose and monitor conditions that cause inflammation. It's particularly valuable for detecting flare-ups in chronic inflammatory conditions and assessing the risk of cardiovascular diseases. Regular CRP testing helps in guiding treatment decisions and monitoring the effectiveness of therapies in reducing inflammation....

BCL2 (B-Cell Lymphoma 2): BCL2 is a gene that encodes a protein involved in regulating apoptosis, a process of programmed cell death. BCL2 proteins play a crucial role in maintaining the balance between cell survival and cell death. Dysregulation of BCL2 is implicated in cancer and various diseases....



BCL2

BHLHE41 (Basic Helix-Loop-Helix Family, Member E41): BHLHE41, also known as DEC2, is a transcription factor implicated in the regulation of circadian rhythms and sleep. Variations in this gene are associated with natural short sleep phenotype, where individuals function well with less sleep than average. Understanding BHLHE41 could provide insights into sleep disorders and circadian rhythm regulation....



BHLHE41

BHMT (Betaine-Homocysteine S-Methyltransferase): BHMT plays a crucial role in the metabolism of homocysteine, a process important for cardiovascular and neurological health. It catalyzes the conversion of homocysteine to methionine, using betaine as a methyl donor. Dysregulation of BHMT can lead to elevated homocysteine levels, associated with cardiovascular diseases and other health issues....



BHMT

BMPR1B (Bone Morphogenetic Protein Receptor Type 1B): BMPR1B is a receptor for bone morphogenetic proteins, involved in bone formation and development. It plays a role in cell growth and differentiation and has been studied in relation to skeletal disorders and cancers....



BMPR1B

C6ORF47 (Chromosome 6 Open Reading Frame 47): C6ORF47, located on chromosome 6, is a lesser-characterized gene. Open reading frames like C6ORF47 often represent potential protein-coding regions, but their specific functions can be enigmatic. The study of such genes can uncover new aspects of cellular function and contribute to a more comprehensive understanding of the human genome....



C6ORF47

C8ORF37 (Chromosome 8 Open Reading Frame 37): C8ORF37 is a gene associated with retinal dystrophies and Bardet-Biedl syndrome, a disorder characterized by vision loss, obesity, and other symptoms. Mutations in this gene can lead to retinal degeneration and impaired ciliary function, highlighting its role in photoreceptor cell maintenance and cilia-related processes....



C8ORF37

NNT (Nicotinamide Nucleotide Transhydrogenase): NNT is an enzyme located in the mitochondrial inner membrane, involved in the regeneration of NADPH from NADH. This process is crucial for maintaining the cellular redox state and protecting cells from oxidative stress. Deficiencies in NNT can lead to impaired mitochondrial function and increased susceptibility to oxidative damage, contributing to metabolic disorders and chronic diseases....



PPA2 (Inorganic Pyrophosphatase 2): PPA2 encodes an enzyme called inorganic pyrophosphatase, which catalyzes the hydrolysis of pyrophosphate (PPi) to inorganic phosphate (Pi). This enzymatic activity is important for cellular energy metabolism and nucleotide biosynthesis. Dysfunctions in PPA2 may impact energy production and nucleotide metabolism....




PPA2

PON2 (Paraoxonase 2): PON2 encodes an enzyme that belongs to the paraoxonase family, which plays a role in detoxification and antioxidant defense. PON2 is involved in the protection against oxidative stress and lipid peroxidation, making it relevant in cardiovascular health and other oxidative stress-related conditions....



POM2

PKD2L2 (Polycystic Kidney Disease 2-Like 2): PKD2L2 is a member of the polycystin protein family, associated with calcium channel and signaling functions. While it shares homology with proteins implicated in polycystic kidney disease, its specific role in renal physiology or disease is less clear. PKD2L2 may have broader implications in cellular signaling and calcium homeostasis....



PKD2L2

MYO18A (Myosin XVIIIA): MYO18A is a unique myosin that plays a role in the organization of the cytoskeleton and in cell migration. It is involved in muscle development and function, and its abnormalities are linked to muscle disorders and possibly some forms of cancer....



MYO18A

MYLK (Myosin Light Chain Kinase): MYLK encodes an enzyme critical for smooth muscle contraction. It phosphorylates myosin light chains, facilitating the interaction between actin and myosin, and is vital in regulating vascular tone and blood pressure. MYLK is also involved in other smooth muscle functions such as gastrointestinal motility and respiratory airway resistance. Alterations in MYLK function or expression are implicated in various disorders including asthma, hypertension, and certain types of cancer....



MYLK

PIK3C2A (Phosphatidylinositol-4-Phosphate 3-Kinase Catalytic Subunit Type 2 Alpha): PIK3C2A is part of the PI3K family, playing a role in cell signaling pathways that control cell growth and survival. It's involved in the regulation of membrane trafficking, insulin signaling, and cytoskeletal dynamics. Dysregulation of PIK3C2A can contribute to various diseases, including cancer and metabolic disorders....



PIK3C2A

MYH6 (Myosin Heavy Chain 6): MYH6 is a gene that encodes the alpha heavy chain subunit of cardiac myosin, a motor protein found in the heart muscle. This protein plays a fundamental role in the contraction of the cardiac muscle, enabling the heart to pump blood efficiently throughout the body. The alpha heavy chain is particularly important for the atrial contraction, contributing to the initial filling phase of the ventricles. Mutations in MYH6 have been linked to various cardiac disorders, including atrial septal defects, cardiomyopathies, and heart rhythm abnormalities, underscoring its critical role in cardiac function and development. The proper...



MYH6

MYH15 (Myosin Heavy Chain 15): MYH15 encodes a myosin heavy chain protein, predominantly found in skeletal muscle. Myosins are motor proteins involved in muscle contraction and cellular motility. The specific role and significance of MYH15 in muscle function and development are subjects of ongoing research....



MYH15

CA2 (Carbonic Anhydrase II): CA2 encodes an enzyme that is extremely important in the regulation of pH and fluid balance in various tissues, including the kidney. It catalyzes the reversible hydration of carbon dioxide, playing a vital role in respiratory gas exchange and acid-base balance. Mutations in CA2 can lead to conditions like osteopetrosis and renal tubular acidosis, highlighting its essential role in bone and kidney function....

MYEOV (Myeloma Overexpressed Gene): MYEOV is often overexpressed in multiple myeloma and other cancers. It's believed to play a role in cancer cell proliferation and survival, making it a potential target for cancer therapy....



MYEOV

MYC (MYC Proto-Oncogene, BHLH Transcription Factor): The MYC gene is a well-known oncogene playing a crucial role in cell cycle progression, apoptosis, and cellular transformation. It's a transcription factor that regulates the expression of numerous genes, influencing various cellular processes. Overexpression of MYC is commonly observed in a wide range of cancers, making it a significant focus in oncology research. The regulation of MYC and its pathways is a key area of study for developing targeted cancer therapies, as its dysregulation is linked to tumorigenesis, cancer progression, and resistance to therapy....



MYBPC3: MYBPC3 is a gene encoding the cardiac myosin-binding protein C, which is vital in regulating heart muscle contraction. Mutations in this gene are a common cause of hypertrophic cardiomyopathy, a significant cause of sudden cardiac death, especially in young athletes. This gene's role is pivotal in cardiac muscle function and its disorders....



MYBPC3

MXRA8 (Matrix Remodeling-Associated Protein 8): MXRA8 is a gene associated with matrix remodeling, a vital process in tissue development and repair. While its specific roles are still being explored, MXRA8's involvement in extracellular matrix interactions suggests potential contributions to tissue homeostasis and regeneration. Understanding its functions may hold implications for tissue engineering and regenerative medicine....



MXRA8

PDE3B (Phosphodiesterase 3B): PDE3B is important in regulating lipid and glucose metabolism. It plays a role in breaking down cyclic AMP, a messenger molecule, which affects processes like lipolysis and insulin secretion. It has implications in metabolic disorders such as obesity and diabetes....



PDE3B

MUC1 (Mucin 1): MUC1 encodes a glycoprotein found on the surface of various epithelial cells, including those lining the respiratory and digestive tracts. It serves protective and lubricating functions and is involved in cell signaling. Aberrant expression of MUC1 is associated with several cancers....



MUC1

MTX1 (Metaxin 1): MTX1 encodes a protein involved in mitochondrial transport and organization. It plays a role in the proper functioning and positioning of mitochondria within cells, which is crucial for energy production and cellular processes....



MTX1

MTRES1 (Mitochondrial tRNA Editing Site 1): MTRES1 is a gene related to mitochondrial tRNA (transfer RNA) editing. tRNAs are essential for protein synthesis in mitochondria. MTRES1 likely plays a role in maintaining the fidelity of mitochondrial protein translation by editing tRNAs....

MTRES1

MTR (5-Methyltetrahydrofolate-Homocysteine Methyltransferase): MTR is a critical enzyme involved in the remethylation pathway of homocysteine metabolism. This enzyme catalyzes the transfer of a methyl group from 5-methyltetrahydrofolate (5-MTHF) to homocysteine, generating methionine and tetrahydrofolate (THF). Methionine serves as a precursor for S-adenosylmethionine (SAM), a universal methyl donor essential for various methylation reactions in the body, including DNA methylation, neurotransmitter synthesis, and histone modification. The remethylation of homocysteine by MTR is a vital process for maintaining normal homocysteine levels and ensuring an adequate supply of methyl groups for cellular methylation reactions. Dysregulation of MTR activity, often due to genetic mutations or deficiencies...



BANK1, also known as B-cell scaffold protein with ankyrin repeats 1, is a protein predominantly expressed in B lymphocytes, a type of white blood cell crucial for adaptive immunity. BANK1 plays a significant role in modulating B-cell receptor (BCR) signaling, a pivotal process in the activation and differentiation of B cells. One of the primary functions of BANK1 is its involvement in BCR signaling pathway regulation. BANK1 acts as a scaffold protein, facilitating the assembly of signaling complexes upon BCR engagement. It interacts with various signaling molecules, including kinases, phosphatases, and adapter proteins, thereby modulating downstream signaling cascades. Through its scaffolding...




BANK1

MTNR1B (Melatonin Receptor 1B): MTNR1B encodes one of the receptors for melatonin, a hormone that regulates sleep and circadian rhythms. This gene plays a crucial role in maintaining the body's internal clock and is also implicated in glucose homeostasis. Variations in MTNR1B have been linked to an increased risk of type 2 diabetes and disrupted sleep patterns....



MTNR1B

PARD3B (Par-3 Family Cell Polarity Regulator Beta): PARD3B is involved in the establishment of cell polarity and the formation of tight junctions in epithelial cells. It plays a crucial role in tissue organization and barrier function. Mutations in PARD3B can lead to developmental disorders affecting tissue structure and integrity....



PARD3B

CXCL5 (C-X-C Motif Chemokine Ligand 5): CXCL5 is a chemokine involved in the recruitment of neutrophils to sites of inflammation and injury, playing a key role in the innate immune response. It is particularly important in the process of wound healing and in the defense against bacterial infections. Overexpression of CXCL5 has been implicated in the promotion of tumor growth and metastasis, especially in cancers associated with chronic inflammation, suggesting its dual role in healing and disease progression....

CXCL5

PAPSS2 (3'-Phosphoadenosine 5'-Phosphosulfate Synthase 2): PAPSS2 is essential for the biosynthesis of PAPS (3'-phosphoadenosine 5'-phosphosulfate), a key sulfate donor in various sulfation reactions. It's important in the metabolism of hormones, drugs, and other molecules. Mutations in PAPSS2 can lead to disorders like spondyloepimetaphyseal dysplasia, underscoring its role in skeletal development....



PAPSS2

MTMR7 (Myotubularin Related Protein 7): MTMR7 is part of the myotubularin family, enzymes involved in the regulation of cellular lipid levels, specifically phosphoinositides. This gene plays a role in intracellular signaling and trafficking. Mutations or dysregulation of MTMR7 can impact cellular processes like autophagy and endocytosis, and have been studied in the context of neurodegenerative diseases....



MTMR7

MTHFR (Methylenetetrahydrofolate Reductase): MTHFR is a key enzyme involved in folate metabolism and the regulation of homocysteine levels in the body. This enzyme catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a crucial step in the remethylation of homocysteine to methionine. Methionine serves as a precursor for S-adenosylmethionine (SAM), a methyl donor essential for numerous methylation reactions in the body, including DNA methylation, neurotransmitter synthesis, and histone modification. Variants in the MTHFR gene, particularly the C677T and A1298C polymorphisms, have been associated with altered enzyme activity and folate metabolism. These variants can lead to elevated homocysteine levels and reduced availability of methyl...



MTHFR

PAPPA (Pregnancy-Associated Plasma Protein A): PAPPA is a protease that cleaves insulin-like growth factor binding proteins, thereby increasing the availability of insulin-like growth factors (IGFs). It plays a significant role in fetal development and has been used as a biomarker in prenatal screening for aneuploidies. Abnormal levels of PAPPA are associated with adverse pregnancy outcomes, including preeclampsia and intrauterine growth restriction....



PAPPA

PAPLN (Pappalysin 1): PAPLN is a gene associated with pregnancy-associated plasma protein-A (PAPP-A), which is involved in pregnancy-related processes. PAPP-A plays a role in the regulation of insulin-like growth factor (IGF) signaling....



PAPLN

PAM (Peptidylglycine Alpha-Amidating Monooxygenase): PAM encodes an enzyme involved in the amidation of peptide hormones, a critical step in the maturation of neuropeptides and peptide hormones. It plays a role in neurotransmitter synthesis and hormone production. Dysregulation of PAM can impact neuropeptide function and hormonal signaling....



MTHFD2 (Methylenetetrahydrofolate Dehydrogenase 2): MTHFD2 is an enzyme that plays a vital role in the mitochondrial one-carbon metabolic pathway, crucial for nucleotide biosynthesis, methylation reactions, and amino acid homeostasis. This enzyme is highly expressed in rapidly dividing cells, including cancer cells, where it contributes to the synthesis of purines and thymidylate, essential for DNA replication and repair. MTHFD2's involvement in cellular metabolism and proliferation highlights its importance in developmental processes and cellular growth. Due to its pivotal role in supporting the metabolic demands of tumor growth and its limited expression in normal adult tissues, MTHFD2 has emerged as a potential...



MTHFD2

MTHFD1 (Methylenetetrahydrofolate Dehydrogenase 1): MTHFD1 is a key enzyme in the folate metabolism pathway, catalyzing the conversion of tetrahydrofolate (THF) derivatives into forms used in the synthesis of DNA, RNA, and amino acids. It plays a crucial role in the one-carbon metabolism pathway, affecting cellular methylation reactions and nucleotide biosynthesis. Mutations or dysregulation of MTHFD1 can lead to disturbances in folate metabolism, associated with increased risk of congenital defects, cardiovascular diseases, and cancer, highlighting its pivotal role in cellular growth and replication processes....





MTHFD1

CXCR2 (C-X-C Motif Chemokine Receptor 2): CXCR2 is a receptor for C-X-C motif chemokines and plays a significant role in mediating leukocyte migration to sites of inflammation. It is primarily involved in the recruitment of neutrophils, critical for the initial response to infection or injury. Dysregulation of CXCR2 signaling is associated with chronic inflammatory diseases, including COPD and asthma, and contributes to the inflammatory microenvironment favorable for tumor growth in cancer. Targeting CXCR2 signaling represents a therapeutic strategy in treating inflammatory diseases and limiting cancer progression....

CXCR2

MYOM1 (Myomesin 1): MYOM1 is a structural protein found in the M-band of sarcomeres in muscle cells. It plays a crucial role in muscle contraction and elasticity. Mutations in MYOM1 can affect muscle function and have been studied in the context of muscle diseases and cardiomyopathies....

MYOM1

PALM (Paralemmin): PALM is involved in neuronal plasticity, membrane trafficking, and cytoskeletal dynamics. It plays a role in the formation and maintenance of dendritic spines, which are essential for synaptic signaling in neurons....



PALM

MTDH (Metadherin): MTDH, also known as AEG-1, is a multifunctional protein implicated in several key cellular processes, including cell adhesion, migration, and oncogenesis. It is heavily involved in the development and progression of various cancers, acting as an oncogene by promoting tumor growth, angiogenesis, and metastasis. MTDH is a target for cancer therapy due to its role in enhancing chemoresistance and its association with poor clinical prognosis in cancer patients....



MTDH

MYPOP (Myb-related transcription factor partner): Similar to MMP15's role in the extracellular matrix (ECM), MYPOP serves as a crucial regulator within the intricate network of transcriptional control. As a partner to Myb-related transcription factors, MYPOP plays a vital role in modulating gene expression patterns essential for various cellular processes, including proliferation, differentiation, and cell cycle progression. Through its involvement in transcriptional regulation, MYPOP influences diverse physiological phenomena, such as tissue development, immune response, and homeostasis maintenance. Dysregulation of MYPOP expression or activity has been implicated in numerous pathological conditions, including cancer, developmental disorders, and immune-related diseases. The precise orchestration of...

MYPOP

PAFAH1B2 (Platelet-Activating Factor Acetylhydrolase 1B, Subunit 2): PAFAH1B2 is involved in the metabolism of platelet-activating factor, a lipid mediator in inflammation. It plays a role in modulating inflammatory responses and may have implications in cardiovascular diseases and immune system functioning....



PAFAH1B2

MTCH2 (Mitochondrial Carrier Homolog 2): MTCH2 is a gene associated with mitochondrial function and energy metabolism. It may play a role in mitochondrial transport and metabolism. Further research is needed to fully understand its function and implications....



MTCH2

MYRIP (Myosin VIIA And Rab Interacting Protein): MYRIP is involved in the transport and localization of melanosomes in pigment cells and synaptic vesicles in neuronal cells. It facilitates the linkage between actin-based myosin VIIA and Rab proteins, crucial in vesicle trafficking. This function is important for processes such as pigmentation and synaptic transmission....

MYRIP

PACC1 (Peroxisome Acyl-CoA Carrier Protein 1): PACC1, while less characterized, is suggested to be involved in lipid metabolism pathways related to peroxisomal functions. Peroxisomes are cellular organelles crucial for the breakdown of very long-chain fatty acids and the synthesis of plasmalogens, important components of cell membranes. Understanding PACC1's role may provide insights into metabolic diseases and disorders involving peroxisomal dysfunction....



PACC1

NAA38 (N(Alpha)-Acetyltransferase 38): NAA38, also known as N(Alpha)-acetyltransferase 38, is involved in the post-translational modification of proteins, specifically in the acetylation of the alpha-amino group of newly synthesized proteins. This modification affects protein stability, localization, and function. NAA38 plays a role in various cellular processes, including the regulation of gene expression and the stress response. Alterations in NAA38 activity have been linked to metabolic disorders and neurodegenerative diseases, emphasizing its importance in cellular metabolism and homeostasis....


NAA38

MTARC1 (Mitochondrial Amidoxime Reducing Component 1): MTARC1 is a mitochondrial gene involved in the reduction of N-hydroxylated compounds, a process important for detoxification. It plays a role in cellular metabolism and energy production. Alterations in MTARC1 can affect mitochondrial function, which is crucial for energy production in cells. Research into MTARC1 is important for understanding metabolic disorders and mitochondrial diseases....



MTARC1

P2RY12 (Purinergic Receptor P2Y12): P2RY12 is a receptor for ADP and plays a key role in platelet aggregation, a crucial step in blood clot formation. It is a target for antiplatelet drugs, which are used to prevent thrombosis in cardiovascular diseases. Understanding P2RY12 is important for cardiovascular health and in the management of clotting disorders....



P2RY12

NAA38 (N-Alpha-Acetyltransferase 38, NatC Catalytic Subunit): NAA38, also known as MAK3, is part of the N-terminal acetyltransferase complex that catalyzes the transfer of acetyl groups to the N-terminus of proteins, a modification affecting protein stability, localization, and function. While the specific biological roles of NAA38 and its substrate specificity are not fully understood, N-terminal acetylation is a widespread and important post-translational modification. Studying NAA38 and related enzymes can provide insights into the regulatory mechanisms of protein function and the implications of protein acetylation in cellular processes and diseases....

MTAP (Methylthioadenosine Phosphorylase): MTAP plays a role in the methionine salvage pathway, recycling methylthioadenosine produced during polyamine synthesis. Its function is critical for nucleotide and polyamine metabolism, affecting cell growth and differentiation. Loss of MTAP is frequently observed in cancers and is associated with poor prognosis, highlighting its potential as a therapeutic target due to its role in metabolic pathways critical for cell viability....



MTAP

NADSYN1 (NAD Synthetase 1): NADSYN1 is involved in the synthesis of NAD (nicotinamide adenine dinucleotide), a vital coenzyme in redox reactions. This gene's function is essential in various metabolic processes, and its role is increasingly recognized in the context of aging, cell death, and certain chronic diseases....

NADSYN1

P2RY1 (Purinergic Receptor P2Y1): P2RY1 is a G-protein coupled receptor that responds to extracellular nucleotides, such as ATP and ADP, playing a critical role in intracellular signaling pathways involved in platelet aggregation, vascular tone, and neurotransmission. Activation of P2RY1 is crucial for initiating the platelet aggregation response to vessel injury, implicating its significance in thrombosis and hemostasis. Dysregulation of P2RY1 signaling is linked to increased risk of cardiovascular diseases, emphasizing its role in vascular health....



P2RY1

MT1X (Metallothionein 1X): MT1X belongs to the metallothionein family, which plays a significant role in metal ion homeostasis and detoxification, as well as protection against oxidative stress. Metallothioneins bind heavy metals, neutralizing their toxicity and aiding in their metabolism and excretion. MT1X, like other members of this family, is involved in the response to heavy metal exposure, oxidative stress, and inflammation, and has been implicated in various diseases, including cancer, due to its role in cell proliferation and apoptosis....



MT1X

NANOS1 (Nanos C2HC-Type Zinc Finger 1): NANOS1 is a post-transcriptional regulator involved in germ cell development. It's essential for the maintenance of germ cell viability and has been studied in relation to infertility and germ cell tumors....

NANOS1

NAV1 (Neuron Navigator 1): NAV1 is a member of the neuron navigator family, involved in neuronal development and axonal guidance. It plays a role in the migration and morphogenesis of neurons, affecting the growth and guidance of axons towards their targets. NAV1's function is essential for the proper wiring of the nervous system, and disruptions in its activity can be linked to neurodevelopmental disorders and may influence recovery processes after nerve injury...


NAV1

MSTN (Myostatin): MSTN encodes myostatin, a protein that acts as a negative regulator of muscle growth and development. Inhibition of myostatin activity is associated with increased muscle mass and strength, making MSTN an attractive target for therapies aimed at promoting muscle growth and treating muscle-wasting conditions....



MSTN

NAV3 (Neuron Navigator 3): NAV3 is implicated in neuronal migration and axonal guidance, playing a crucial role in brain development. It is part of the neuron navigator family, which is important for the proper formation of neural networks. Alterations in NAV3 have been linked to a variety of neurological disorders, including Alzheimer's disease and schizophrenia, underscoring its significance in maintaining neural structure and function....

NAV3

NBDY (NABP Domain Containing): NBDY, also known as C11orf73, is a relatively uncharacterized gene. It contains a domain found in nucleic acid-binding proteins, suggesting a potential role in DNA or RNA metabolism. The specific functions and implications of NBDY in human health and disease are yet to be fully elucidated....

NBDY

MST1 (Macrophage Stimulating 1): MST1 encodes a protein involved in the stimulation of macrophages, key cells in the immune system. It plays a role in inflammation and immune response, and is implicated in the pathogenesis of autoimmune diseases and cancer....



MST1

Saliva

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