POU3F3 (POU Class 3 Homeobox 3): POU3F3 is a member of the POU family of transcription factors, known for their role in regulating gene expression in the development of the nervous system. It is crucial for the differentiation and maintenance of neural progenitor cells, influencing the development of various brain regions. Research has shown that mutations or dysregulation of POU3F3 can be associated with neurodevelopmental disorders and might contribute to the etiology of certain psychiatric conditions....

POU3F3

KCNIP4, also known as Kv channel-interacting protein 4, belongs to the family of Kv channel-interacting proteins (KCNIPs), also known as Kv channel regulatory proteins (KCHIPs). These proteins are associated with voltage-gated potassium (Kv) channels and modulate their function. One of the primary functions of KCNIP4 is its role in regulating the properties of Kv channels. Kv channels are integral membrane proteins that play a crucial role in controlling the electrical activity of cells by regulating the flow of potassium ions across cell membranes. KCNIP4 interacts with Kv channels and modulates their gating kinetics, voltage dependence, and trafficking to the cell membrane,...

KCNIP4

POU5F2 (POU Class 5 Homeobox 2): POU5F2 is a transcription factor belonging to the POU family, known for their roles in developmental processes and cell type-specific gene expression. The specific functions of POU5F2 are not well characterized but may involve regulation of gene expression in certain developmental or cellular contexts....

POU5F2

STARD5 (StAR-Related Lipid Transfer Domain Containing 5): STARD5 is part of the START domain family, involved in the transport and distribution of lipids within cells. It plays a role in regulating lipid metabolism and homeostasis, particularly in the liver and gastrointestinal tract. Although the specific functions of STARD5 are still being explored, its role in lipid transport suggests implications for metabolic disorders and diseases involving lipid dysregulation....



STARD5

KCNJ11 (Potassium Inwardly Rectifying Channel Subfamily J Member 11): KCNJ11 encodes a protein that forms part of the ATP-sensitive potassium (KATP) channel in pancreatic beta cells. KATP channels play a role in insulin secretion and glucose homeostasis. Variations in KCNJ11 are associated with an increased risk of type 2 diabetes....

KCNJ11

KCNJ3 (Potassium Voltage-Gated Channel Subfamily J Member 3): KCNJ3, also known as GIRK1 (G protein-activated inwardly rectifying potassium channel 1), is involved in regulating neuronal excitability and heart rate. By controlling potassium ion flow, KCNJ3 contributes to the stabilization of the resting membrane potential and the modulation of action potential in neurons and cardiac muscle cells. Dysregulation of KCNJ3 has been implicated in neurological disorders, such as epilepsy and mood disorders, and cardiovascular diseases, highlighting its role in maintaining electrical stability in the brain and heart....

KCNJ3

STAT3 (Signal Transducer and Activator of Transcription 3): STAT3 is a critical transcription factor involved in various cellular processes, including cell growth, differentiation, and apoptosis. It plays a significant role in the immune response and is heavily implicated in cancer biology, with dysregulation of STAT3 being linked to a variety of cancers and other diseases....



STAT3

KCNK17 (Potassium Channel Subfamily K Member 17): KCNK17 encodes a member of the two-pore domain potassium channel family. It plays a role in ion channel function and may be involved in cellular excitability and membrane potential regulation....

KCNK17

PPARA (Peroxisome Proliferator-Activated Receptor Alpha): PPARA is a key regulator of lipid metabolism, particularly in the liver. It is involved in the catabolism of fatty acids, and its activation can lead to increased fatty acid oxidation and decreased serum triglycerides. PPARA is also implicated in the regulation of inflammatory responses and is a target for drugs treating hyperlipidemias....




PPARA

KCNK2 (Potassium Two Pore Domain Channel Subfamily K Member 2): KCNK2 encodes a protein that forms part of a potassium channel, which plays a significant role in setting the electrical activity of neurons. These channels are involved in regulating neuronal excitability and are important for various physiological processes, including the regulation of sleep and anesthesia. Dysfunctions or mutations in KCNK2 have been implicated in neurological disorders, such as epilepsy and paroxysmal movement disorders....

KCNK2

PPARG (Peroxisome Proliferator-Activated Receptor Gamma): PPARG is a nuclear receptor that regulates the expression of genes involved in fatty acid storage, glucose metabolism, and adipocyte differentiation. It is a key regulator of insulin sensitivity and is targeted by thiazolidinediones, a class of antidiabetic drugs. Its role in metabolic pathways makes it a significant gene in the study of obesity, diabetes, and cardiovascular disease....

PPARG

STAT6 (Signal Transducer And Activator Of Transcription 6): STAT6 is critical for signaling pathways triggered by cytokines, particularly those involved in the immune response, such as IL-4 and IL-13, which are key mediators in the development of allergic inflammation. STAT6 activation leads to transcription of genes that promote Th2 cell differentiation, IgE production, and mast cell growth. Its role in allergic responses and asthma makes STAT6 a target for therapeutic interventions aiming to modulate immune reactions in allergic diseases....



STAT6

PPARGC1B (Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-Beta): PPARGC1B is a coactivator of the PPARγ receptor, playing a significant role in energy metabolism. It is involved in the regulation of genes associated with energy production, such as those involved in mitochondrial biogenesis and fatty acid metabolism. This gene is pivotal in metabolic processes and has been linked to conditions like obesity and diabetes....

PPARGC1B

STEAP1B (STEAP Family Member 1B): STEAP1B, part of the Six Transmembrane Epithelial Antigen of the Prostate (STEAP) family, is involved in metalloreduction, particularly iron and copper reduction. It may play a role in cellular iron homeostasis and metabolism, which are vital for various physiological processes. The specific functions of STEAP1B in human health and disease are still being explored, with potential implications for understanding iron-related metabolic pathways....



STEAP1B

PPFIA2 (PTPRF Interacting Protein Alpha 2): PPFIA2 is a member of the liprin family and plays a role in cell communication and adhesion. It's involved in the regulation of synaptic formation and maintenance, particularly in the central nervous system. The protein influences the development and plasticity of neural networks, and alterations in its function may contribute to neurological disorders....

PPFIA2

KCNK9 (Potassium Two Pore Domain Channel Subfamily K Member 9): KCNK9 encodes a member of the potassium channel family, specifically a two-pore-domain potassium channel. These channels are involved in setting the resting membrane potential and regulating neuronal excitability. Mutations in KCNK9 have been associated with Birk-Barel mental retardation dysmorphism syndrome, highlighting its role in neural development and function....

KCNK9

KCNMB3 (Potassium Calcium-Activated Channel Subfamily M Regulatory Beta Subunit 3): KCNMB3 is part of a family of calcium-activated potassium channels, which are important in regulating neuronal excitability and vascular tone. This gene plays a role in blood pressure regulation and cardiovascular function, and variations can have implications in hypertension and heart diseases....

KCNMB3

PPIF (Peptidylprolyl Isomerase F): PPIF, also known as cyclophilin D, is a mitochondrial peptidyl-prolyl cis-trans isomerase involved in the regulation of mitochondrial permeability transition pore (MPTP), which plays a key role in apoptosis and necrosis. PPIF's function is crucial for cell death pathways, and its inhibition has been explored as a therapeutic strategy in conditions involving ischemia-reperfusion injury, such as heart attack and stroke....




PPIF

STEAP2 (Six-Transmembrane Epithelial Antigen of the Prostate 2): STEAP2, a transmembrane protein, plays a role in cellular iron homeostasis. It orchestrates the transport of iron across cell membranes, impacting the availability of iron for various cellular processes. Its involvement in iron regulation and its potential implications in iron-related disorders have made STEAP2 a subject of interest in the field of iron metabolism and cellular physiology....



STEAP2

KCTD1 (Potassium Channel Tetramerization Domain Containing 1): KCTD1 is part of a family of proteins that are known to interact with potassium channels, influencing their activity. These proteins play roles in various cellular functions, including signal transduction and ion transport. Mutations in KCTD1 have been linked to developmental disorders, particularly affecting the skin and hair....

KCTD1

PPIL1 (Peptidylprolyl Isomerase Like 1): PPIL1 is a member of the cyclophilin family of peptidylprolyl isomerases, enzymes that catalyze the cis-trans isomerization of proline imide bonds in polypeptides, thus facilitating protein folding and assembly. This enzymatic activity is crucial for various cellular processes, including signal transduction, transcriptional regulation, and cell cycle progression. PPIL1 is involved in the folding and function of proteins, contributing to the maintenance of cellular homeostasis and response to stress. It participates in several protein complexes and plays roles in the splicing of pre-mRNA, aiding in the precise regulation of gene expression. The involvement of PPIL1 in...

PPIL1

STIM1 (Stromal Interaction Molecule 1): STIM1 is a key regulator of calcium entry into cells, playing a crucial role in calcium signaling and homeostasis. It is important in various cellular processes, including muscle contraction, gene expression, and cell growth. Mutations in STIM1 are associated with immune dysfunction and muscle disorders....



STIM1

STK17A (Serine/Threonine Kinase 17A): STK17A encodes a protein kinase involved in regulating cell death (apoptosis) and cell survival. It plays a role in various cellular processes, including the response to cellular stress and DNA damage. Dysregulation of STK17A can impact cell survival and contribute to diseases like cancer....



STK17A

KCTD15 (Potassium Channel Tetramerization Domain Containing 15): KCTD15 is involved in neural development and potassium channel regulation. It plays a role in the assembly of potassium channel complexes, which are important for neuronal excitability. Dysregulation of KCTD15 may impact neural function....

KCTD15

KCTD9 (Potassium Channel Tetramerization Domain Containing 9): KCTD9 is a gene associated with a domain involved in protein-protein interactions and the assembly of protein complexes. It may play a role in the formation or regulation of protein complexes related to ion channel function or other cellular processes....

KCTD9

STK32A (Serine/Threonine Kinase 32A): STK32A encodes a serine/threonine kinase, a type of enzyme that modifies other proteins by chemically adding phosphate groups. These kinases are involved in various cellular processes, including signaling, cell cycle control, and apoptosis. The specific role of STK32A in these processes remains an area of active research, with implications for understanding cell regulation and potential roles in diseases like cancer....



STK32A

KDR: KDR, also known as VEGFR2, is a key gene in angiogenesis, the formation of new blood vessels. It encodes a receptor for VEGF (vascular endothelial growth factor), crucial for blood vessel development and repair. Abnormalities in KDR have implications in cancer, where angiogenesis can support tumor growth, and in cardiovascular diseases....

KDSR (3-Ketodihydrosphingosine Reductase): KDSR is an enzyme involved in sphingolipid metabolism. It catalyzes the reduction of 3-ketodihydrosphingosine to dihydrosphingosine, a precursor in the synthesis of ceramides and sphingolipids. Proper sphingolipid metabolism is crucial for cell membrane structure and signaling....

KDSR

KEL (Kell Blood Group): KEL is associated with blood group antigens and is involved in blood transfusion compatibility. It plays a crucial role in antigenic determinants on the surface of red blood cells, influencing transfusion reactions and compatibility assessments....

STK39 (Serine/Threonine Kinase 39): STK39 is a kinase involved in regulating ion transport and cellular volume, particularly in response to osmotic stress. It has been studied in relation to hypertension and kidney function, as it influences sodium and chloride reabsorption in the kidneys....



STK39

KIAA0825: KIAA0825 is a less characterized gene with currently limited information regarding its function. Genes within the KIAA series were initially identified in large-scale sequencing projects and often require further research to fully understand their roles in cellular processes and disease mechanisms....

KIAA0825

STMN3 (Stathmin 3): STMN3 is a microtubule-destabilizing protein that plays a role in regulating microtubule dynamics, which is essential for processes such as cell division, intracellular transport, and cell motility. In neurons, STMN3 is involved in the regulation of axonal growth and synaptic function, and its dysregulation has implications for neurodevelopmental and neurodegenerative disorders....



STMN3

KIAA1109: KIAA1109 is a gene associated with a broad range of autoimmune diseases, including rheumatoid arthritis, systemic lupus erythematosus, and inflammatory bowel disease. While its specific function is not fully understood, it is believed to play a role in immune regulation and inflammatory responses. The study of KIAA1109 is significant for understanding the genetic basis of autoimmune disorders and for developing targeted therapies....

KIAA1109

KIF17 (Kinesin Family Member 17): KIF17 is a motor protein that transports cargo along microtubules, playing a key role in intracellular transport, particularly in neurons. It is involved in the anterograde transport of molecules such as NMDA receptors to synaptic sites, affecting synaptic plasticity and memory formation. Dysregulation of KIF17 has been linked to neurological disorders, underscoring its importance in neuron function and health....

KIF17

KIF1A (Kinesin Family Member 1A): KIF1A is a neuron-specific motor protein essential for axonal transport, which is critical for neuron function and survival. Mutations in KIF1A are associated with neurodegenerative diseases and developmental neurological disorders, reflecting its key role in neural development and maintenance. ...

KIF1A

KIF26B (Kinesin Family Member 26B): KIF26B is a member of the kinesin family, proteins that are motor molecules involved in the transport of cellular cargo along microtubules. It plays a role in developmental processes, including kidney and limb development, through the regulation of morphogenetic movements and signal transduction pathways. Mutations or dysregulation of KIF26B can lead to developmental abnormalities, making it a focus for understanding congenital disorders....

KIF26B

STXBP5 (Syntaxin Binding Protein 5): STXBP5 is involved in the regulation of neurotransmitter release at synapses. It interacts with components of the SNARE complex, playing a critical role in vesicle trafficking and exocytosis. It has implications in neurological disorders and synaptic function....



STXBP5

KIF2B (Kinesin Family Member 2B): KIF2B is involved in microtubule dynamics, crucial for chromosome segregation during cell division. It is a member of the kinesin motor protein family, which is important for intracellular transport and cell motility. Dysfunctions in KIF2B can lead to mitotic abnormalities and have implications in cancer....

KIF2B

SUGCT (Succinyl-CoA:Glutarate-CoA Transferase): SUGCT is involved in the metabolism of glutarate, playing a role in the tricarboxylic acid (TCA) cycle. It is important in energy production and amino acid metabolism. Dysfunctions in SUGCT can lead to glutaric aciduria type III, a metabolic disorder affecting energy production....



SUGCT

SULT2A1 (Sulfotransferase Family 2A Member 1): SULT2A1 is a gene encoding an enzyme belonging to the sulfotransferase family. This enzyme is responsible for sulfating various compounds, including hormones, drugs, and xenobiotics. Sulfation reactions catalyzed by SULT2A1 are crucial for the metabolism and elimination of these compounds, contributing to detoxification processes in the body....



SULT2A1

SUOX (Sulfite Oxidase): SUOX encodes sulfite oxidase, an enzyme vital for the metabolism of sulfur-containing amino acids. It catalyzes the final step in the degradation of cysteine and methionine, converting sulfite to sulfate, which is excreted in the urine. Deficiencies in SUOX activity lead to sulfite accumulation, resulting in neurological damage and physical abnormalities, a condition known as sulfite oxidase deficiency. This highlights the enzyme's essential role in amino acid metabolism and the prevention of neurotoxicity associated with sulfite accumulation....



SUOX

SVEP1 (Sushi, Von Willebrand Factor Type A, EGF And Pentraxin Domain Containing 1): SVEP1 is a cell adhesion molecule involved in the development of cardiovascular and lymphatic systems. It plays a role in cell-cell interactions and signaling pathways that are crucial for vascular integrity and immune responses. Alterations in SVEP1 are linked to cardiovascular diseases and may have implications in immune system disorders....



SVEP1

SYCP2L (Synaptonemal Complex Protein 2-Like): SYCP2L is involved in meiosis, playing a role in the formation of the synaptonemal complex, which is essential for the pairing and recombination of homologous chromosomes. It's important in understanding the mechanisms of genetic recombination and fertility, with potential implications in reproductive biology and disorders....



SYCP2L

SYNDIG1 (Synapse Differentiation Inducing 1): SYNDIG1 is implicated in the formation and differentiation of synapses in the nervous system. It plays a crucial role in synaptic plasticity and neuronal communication, which are fundamental for learning and memory....



SYNDIG1

KISS1R (Kisspeptin Receptor): KISS1R, also known as GPR54, is a receptor crucial for the activation of the hypothalamic-pituitary-gonadal axis, playing a pivotal role in the onset of puberty and fertility. It binds to kisspeptin, a neuropeptide that stimulates the release of gonadotropin-releasing hormone, thereby influencing reproductive hormone levels. Mutations in KISS1R can lead to hypogonadotropic hypogonadism, a condition characterized by delayed or absent puberty and reproductive dysfunction. The receptor is also implicated in the regulation of metabolic processes and has been studied in the context of tumor suppression....

KISS1R

KIT, also known as the CD117 antigen, is a gene that encodes a protein critical for various cellular processes. This protein functions as a receptor tyrosine kinase involved in cell growth, differentiation, and survival. It plays a pivotal role in the development and function of several cell types, including melanocytes, germ cells, and hematopoietic cells. Understanding KIT's mechanisms could unlock new avenues for treating cancers and other conditions where KIT signaling is aberrant. Exploring its pathways offers potential for targeted therapies, making KIT a key focus in medical research....

SYT10 (Synaptotagmin X): SYT10, a member of the synaptotagmin family, is implicated in the regulation of neurotransmitter release and intracellular signaling pathways. Synaptotagmins are known for their critical role in synaptic vesicle trafficking and membrane fusion, with SYT10 specifically involved in calcium-dependent exocytosis in non-neuronal tissues. It acts as a calcium sensor, modulating the release of neuropeptides and hormones in response to intracellular calcium levels. The precise function of SYT10 in neurotransmission and its involvement in the modulation of synaptic plasticity underscore its potential relevance to neurological conditions and cognitive processes. Dysregulation of SYT10 expression has been associated with various...



SYT10

SYT13 (Synaptotagmin 13): SYT13 is a member of the synaptotagmin gene family, which is involved in synaptic vesicle trafficking and neurotransmitter release in neurons. It contributes to the regulation of synaptic transmission and neuronal communication....



SYT13

TAFA1 (TAFA Chemokine Like Family Member 1): TAFA1 is a small cytokine-like protein involved in immune regulation and neuronal communication. It is part of a family of proteins that appear to act as brain-specific chemokines or neurokines and may play roles in nervous system development and function....



TAFA1

TAFA3 (TAFA Chemokine Like Family Member 3): TAFA3 is part of a family of proteins that are similar to chemokines, involved in immune responses and inflammatory processes. The specific role of TAFA3 is not well understood, but it is thought to be involved in the regulation of immune cell activity and may play a role in neuroinflammation....



TAFA3

KIZ (Kizuna Centrosomal Protein): KIZ encodes a protein involved in centrosome integrity and spindle formation during cell division. It is important for maintaining genomic stability, and disruptions in KIZ function can contribute to developmental disorders and cancer....

TAMM41 (TAM41 Mitochondrial Translocator Assembly and Maintenance Protein): TAMM41 is involved in phospholipid biosynthesis within mitochondria, playing a crucial role in mitochondrial membrane maintenance and function. It is essential for the proper assembly and operation of the mitochondrial electron transport chain, affecting cellular energy production. Research into TAMM41 focuses on its role in mitochondrial physiology and its implications for metabolic disorders and mitochondrial diseases....



TAMM41

TANC1 (Tetratricopeptide Repeat, Ankyrin Repeat, and Coiled-Coil Containing 1): TANC1 is a protein involved in synaptic function and neural development. It's thought to play a role in the formation and maintenance of synapses, the junctions through which neurons communicate. Dysfunctions in TANC1 may impact neural connectivity and have been explored in relation to neurodevelopmental disorders....



TANC1

TAP2 (Transporter 2, ATP Binding Cassette Subfamily B Member): TAP2 is a gene involved in antigen presentation and the immune response. It plays a role in transporting peptides into the endoplasmic reticulum for loading onto major histocompatibility complex (MHC) molecules. TAP2 is important for adaptive immunity....



TAP2

KL (Klotho): KL encodes the klotho protein, which is involved in aging and longevity. Klotho has been associated with the regulation of calcium and phosphate metabolism, as well as its role in suppressing aging-related processes. This gene is of great interest in aging research and may hold clues to extending human lifespan and improving age-related health....

TARS1 (Threonyl-TRNA Synthetase 1): TARS1 is an enzyme involved in the synthesis of threonyl-tRNA, an essential step in protein synthesis. It plays a critical role in translating genetic information into functional proteins. Mutations in TARS1 have been associated with neurological disorders due to its importance in protein synthesis....



TARS1

KLF14 (Krüppel-Like Factor 14): KLF14 is a transcription factor belonging to the Krüppel-like factor family, which plays a significant role in regulating gene expression patterns involved in various cellular processes. KLF14 is particularly notable for its involvement in metabolic regulation and adipogenesis. It acts as a key regulator of adipocyte differentiation and lipid metabolism, influencing both the storage and utilization of fats within the body. Additionally, KLF14 has been implicated in glucose homeostasis and insulin sensitivity, indicating its broader importance in metabolic health. Dysregulation of KLF14 expression has been associated with metabolic disorders such as obesity, type 2 diabetes, and...

KLF14

PPM1F (Protein Phosphatase, Mg2+/Mn2+ Dependent 1F): PPM1F encodes a protein phosphatase that is involved in the dephosphorylation of target proteins. Protein phosphorylation and dephosphorylation are critical for the regulation of cellular processes such as signal transduction and cell cycle progression. PPM1F likely contributes to the fine-tuning of these processes....

PPM1F

KLF6, or Krüppel-Like Factor 6, is a transcription factor that belongs to the Krüppel-like family of zinc finger proteins. It plays crucial roles in the regulation of gene expression, cell proliferation, differentiation, apoptosis, and various biological processes involved in development, tissue homeostasis, and disease pathogenesis. One of the primary functions of KLF6 is its role as a transcriptional regulator. It binds to specific DNA sequences within the regulatory regions of target genes, known as Krüppel-like factor binding sites, thereby modulating their transcriptional activity. KLF6 can act as both a transcriptional activator and a repressor, depending on the cellular context and the...

KLF6

PPP1CB (Protein Phosphatase 1 Catalytic Subunit Beta): PPP1CB encodes a catalytic subunit of protein phosphatase 1, a key enzyme in the regulation of cellular processes through dephosphorylation. This enzyme plays a vital role in various cellular functions, including muscle contraction, glycogen metabolism, and cell division. Abnormalities in PPP1CB activity are implicated in several diseases, including cardiac disorders and cancer....




PPP1CB

KLRK1 (Killer Cell Lectin Like Receptor K1): KLRK1 encodes an activating receptor found on natural killer (NK) cells and some T cells. It plays a role in immune surveillance by recognizing stress-induced ligands on target cells, leading to the elimination of infected or transformed cells. KLRK1 is important in the body's defense against viral infections and certain cancers....

KLRK1

KNDC1 (Kinase Non-Catalytic C-Lobe Domain Containing 1): KNDC1 is a gene associated with kinase domains but is considered non-catalytic, meaning it does not have enzymatic kinase activity. Its precise functions and roles in cellular processes are still being elucidated, and further research is needed to understand its contributions to cell biology....

KNDC1

KRT72 (Keratin 72): KRT72 is a gene encoding a type II keratin, which is a part of the cytoskeletal structure in epithelial cells. It plays a significant role in the structural integrity and function of hair follicles. Mutations in this gene are often associated with hair disorders, reflecting its importance in hair formation and maintenance....

KRT72

TAS2R5 (Taste 2 Receptor Member 5): TAS2R5 is one of the human bitter taste receptors, involved in the perception of bitterness. These receptors are important for detecting potentially harmful substances in food. Variations in TAS2R5 and other taste receptors can influence dietary preferences and nutritional choices, potentially impacting metabolic and overall health....



TAS2R5

PPP1R17 (Protein Phosphatase 1 Regulatory Subunit 17): PPP1R17 encodes a protein that serves as a regulatory subunit of protein phosphatase 1 (PP1). PP1 is involved in the dephosphorylation of target proteins and plays a critical role in cell signaling, metabolism, and cell cycle regulation. PPP1R17 likely modulates the specificity and activity of PP1, impacting various cellular processes....

PPP1R17

PPP1R3B (Protein Phosphatase 1 Regulatory Subunit 3B): PPP1R3B regulates the activity of protein phosphatase 1, which is involved in glycogen metabolism. It plays a role in controlling glycogen storage in the liver and is implicated in glucose homeostasis and metabolic disorders....




PPP1R3B

TASP1 (Taspase, Threonine Aspartase 1): TASP1 encodes a protease responsible for cleaving specific protein substrates. Its role in protein processing and regulation is crucial for maintaining cellular homeostasis. Research on TASP1 focuses on understanding its substrate specificity and how it contributes to cellular functions, especially in the context of cell cycle control and signaling pathways....



TASP1

PPP2R3C (Protein Phosphatase 2 Regulatory Subunit B''Gamma): This gene encodes a regulatory subunit of the protein phosphatase 2 (PP2A) complex, which is a serine/threonine phosphatase involved in the control of cell growth and division. PPP2R3C modulates the activity of PP2A, influencing various signaling pathways related to cellular stress responses, DNA damage repair, and apoptosis. Its role is critical in maintaining cellular homeostasis and in the regulation of cell cycle checkpoints....

PPP2R3C

TBC1D8B (TBC1 Domain Family Member 8B): TBC1D8B is part of the TBC1 domain family, known for their role in intracellular trafficking and signaling. This gene is involved in the regulation of membrane trafficking and may have implications in cellular transport processes. Understanding TBC1D8B can provide insights into cellular homeostasis and diseases related to intracellular transport dysfunction....



TBC1D8B

TBKBP1 (TANK-Binding Kinase 1 Binding Protein 1): TBKBP1, also known as SINTBAD, is a scaffold protein involved in the regulation of innate immunity and inflammatory responses. It interacts with TBK1 and IKKε kinases, playing a crucial role in antiviral responses and the production of type I interferons. TBKBP1's role in modulating immune signaling pathways highlights its importance in immune defense and its potential as a therapeutic target in inflammatory and autoimmune diseases....



TBKBP1

PPP3CA (Protein Phosphatase 3 Catalytic Subunit Alpha): PPP3CA is a gene that codes for the catalytic subunit alpha of protein phosphatase 3 (PP3), also known as calcineurin. Calcineurin is a calcium-dependent phosphatase involved in signaling pathways that regulate immune responses and cellular processes such as gene expression. PPP3CA's activity contributes to the dephosphorylation of target proteins, influencing multiple cellular functions....

PPP3CA

TBX2 (T-Box Transcription Factor 2): TBX2 encodes a transcription factor that belongs to the T-box family. It plays a role in embryonic development and tissue differentiation, particularly in the development of the heart and limb formation....



TBX2

PPP6R2 (Protein Phosphatase 6 Regulatory Subunit 2): PPP6R2 encodes a regulatory subunit of protein phosphatase 6 (PP6), which is involved in dephosphorylation of target proteins. PP6 plays roles in various cellular processes, including cell cycle regulation, DNA damage repair, and cellular signaling. PPP6R2 is likely involved in modulating the activity and specificity of PP6....

PPP6R2

PRB2 (Proline-Rich Protein BstNI Subfamily 2): PRB2 is involved in oral and salivary biology, playing a role in the formation of the dental pellicle and oral mucosal defense. It is part of the proline-rich protein family, which is important for maintaining oral health and protecting against dental caries and other oral diseases....

PRB2

KRT73 (Keratin 73): KRT73 is a gene encoding for a type of keratin, a protein essential for the structural integrity of hair and nails. Specifically, Keratin 73 is involved in hair shaft formation. Mutations or alterations in this gene can lead to hair disorders, particularly affecting the texture and strength of hair. Studies on KRT73 contribute to understanding hair biology and potential treatments for hair-related conditions....

KRT73

PRDM16 (PR Domain Containing 16): PRDM16, a transcription factor, takes on the mantle of orchestrating the differentiation of brown adipocytes and igniting the flames of thermogenesis. In the quest to understand energy expenditure and metabolic health, PRDM16 emerges as a central figure, influencing processes that impact our body's energy balance. Its potential to illuminate the path to metabolic health and combat obesity has made it a prominent character in the world of metabolic research....




PRDM16

KRTAP7-1 (Keratin Associated Protein 7-1): KRTAP7-1 is a member of the keratin-associated proteins family, contributing to the structure and properties of hair fibers. It plays a role in determining hair texture and strength. Variations in KRTAP7-1 and other keratin-associated proteins can affect hair characteristics and are relevant in the study of hair and scalp disorders....

KRTAP7-1

L3MBTL1 (Lethal(3) Malignant Brain Tumor-Like 1): L3MBTL1 is thought to be involved in chromatin organization and regulation of gene expression. It has been implicated in the repression of target genes and is of interest in cancer research, particularly in relation to its potential role in tumor suppression....

L3MBTL1

LAMA4 (Laminin Subunit Alpha 4): LAMA4 is part of the laminin family, crucial for cell adhesionand the integrity of the extracellular matrix. It plays a significant role in tissue organization, angiogenesis, and has implications in various pathological conditions, including cancer and vascular diseases....

LAMA4

LAMA5 (Laminin Subunit Alpha 5): LAMA5 is part of the laminin protein family, which is crucial for the structure and function of basement membranes in various tissues. Laminins are involved in cell adhesion, differentiation, migration, and signaling. LAMA5 plays a significant role in vascular and neural development and has been studied for its involvement in pathological conditions such as cancer metastasis and fibrosis, where basement membrane integrity and function are disrupted....

LAMA5

PRDM5 (PR Domain Containing 5): PRDM5 is a transcription factor that plays a significant role in gene regulation, cellular differentiation, and extracellular matrix organization. It is involved in the development and maintenance of various tissues, including bone, cartilage, and connective tissue. Mutations in PRDM5 are linked to brittle cornea syndrome and other connective tissue disorders, highlighting its importance in tissue integrity and disease....

PRDM5

LAMP3 (Lysosomal Associated Membrane Protein 3): LAMP3 is involved in lysosomal function and cell signaling. It's important in the immune response, particularly in antigen presentation. Elevated levels of LAMP3 have been observed in various types of cancers, suggesting a role in tumor progression and metastasis....

LAMP3

LANCL1 (LanC Like 1): LANCL1 is a gene that encodes a protein with LanC (Lantibiotic Synthetase Component C-like) domains. While the specific functions of LANCL1 are still being elucidated, proteins with LanC domains are often associated with various cellular processes, including signal transduction, protein-protein interactions, and cellular regulation. Further research is needed to fully understand the roles of LANCL1 in cellular biology....

LANCL1

LARP4B (La-Related Protein 4B): LARP4B is a member of the La-related protein (LARP) family, involved in the regulation of RNA stability and translation. While the specific functions of LARP4B are still being elucidated, LARPs generally play roles in post-transcriptional gene regulation, affecting mRNA stability, translation, and cell growth. Understanding LARP4B's function could provide insights into the mechanisms of gene expression control and its implications for diseases related to RNA dysregulation....

LARP4B

LAX1 (Lymphocyte Transmembrane Adaptor 1): LAX1 is a transmembrane protein that is primarily expressed in lymphocytes. It plays a role in immune cell signaling and activation. LAX1 is involved in the regulation of lymphocyte development and function....



LAX1

PRDM6 (PR Domain Containing 6): PRDM6 is a member of the PRDM family of transcriptional regulators, known for its role in epigenetic modifications and gene expression regulation. It acts primarily as a transcriptional repressor, influencing the development and function of cardiovascular and other systems by modulating the expression of genes involved in cell differentiation, proliferation, and apoptosis. PRDM6 is particularly important in vascular development and smooth muscle cell differentiation, where its precise regulation is crucial for normal blood vessel formation and cardiovascular homeostasis. Dysregulation of PRDM6 has been implicated in various pathological conditions, including hypertension, vascular remodeling, and potentially contributing...

PRDM6

PRDM8 (PR/SET Domain 8): PRDM8 is a transcription factor involved in neurodevelopment, particularly in the differentiation and function of neurons. It plays a role in the development of the central nervous system and has been implicated in neural disorders....

PRDM8

PRELID1 (Prelamin A-Related Integral Membrane Protein 1): PRELID1 is a gene associated with nuclear envelope biology. It plays a role in the processing of prelamin A, a precursor protein to lamin A. Lamin A is a structural component of the nuclear envelope and is essential for maintaining nuclear structure and integrity. Alterations in PRELID1 may impact nuclear organization and function, leading to potential cellular consequences....




PRELID1

PREP (Prolyl Endopeptidase): PREP is a serine protease involved in the degradation of proline-containing peptides, playing a role in the metabolism of neuropeptides and peptide hormones. It is implicated in the modulation of cognitive processes and the inflammatory response. Alterations in PREP activity have been linked to neurological disorders, including Alzheimer's disease, suggesting its role in neurodegeneration and cognitive function....

PREP

PRG4 (Proteoglycan 4): PRG4, also known as lubricin, plays a critical role in joint lubrication and cartilage integrity. It helps reduce friction in joints and protects cartilage surfaces from damage. Mutations in PRG4 can lead to joint disorders like camptodactyly-arthropathy-coxa vara-pericarditis syndrome and are implicated in osteoarthritis....

PRG4

PRICKLE1 (Prickle Planar Cell Polarity Protein 1): PRICKLE1 is involved in the planar cell polarity pathway, which coordinates the orientation of cells in the plane of a tissue. Mutations in PRICKLE1 are associated with epilepsy and neurodevelopmental disorders, reflecting its role in neural development and function....




PRICKLE1

LBP (Lipopolysaccharide-Binding Protein): LBP is a protein involved in the immune response to bacterial infections. It plays a crucial role in binding to bacterial lipopolysaccharides (LPS) and initiating the innate immune response. LBP is an essential component of the host defense against bacterial pathogens....

PRIMA1 (Proline Rich Membrane Anchor 1): PRIMA1 is involved in anchoring acetylcholinesterase to neuronal membranes, playing a key role in the breakdown of the neurotransmitter acetylcholine. It's significant in the regulation of cholinergic neurotransmission and is of interest in studies of neurodegenerative diseases like Alzheimer's....




PRIMA1

LCE3C (Late Cornified Envelope 3C): LCE3C is part of the late cornified envelope gene cluster, which plays a role in the formation of the cornified envelope in the epidermis, a structure important for skin barrier function. Variations in this gene have been associated with skin disorders, including psoriasis, reflecting its role in skin integrity and immune response in the skin....

LCE3C

LCK (Lymphocyte-Specific Protein Tyrosine Kinase): LCK is a critical enzyme in the T-cell receptor (TCR) signaling pathway, playing a pivotal role in T-cell development and activation. It phosphorylates key proteins involved in the TCR signaling cascade, initiating the immune response. LCK's activity is essential for the adaptive immune system's function, and dysregulation can lead to autoimmune diseases or immunodeficiency. Its importance in T-cell function makes LCK a target for immunotherapy in cancer and autoimmune disorders....

PRKAG2 (Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2): PRKAG2 encodes a regulatory subunit of AMP-activated protein kinase (AMPK), a key enzyme involved in cellular energy regulation. It plays a role in the sensing of cellular energy status and the activation of pathways to restore energy balance....




PRKAG2

LCT (Lactase): LCT encodes the enzyme lactase, which is essential for the digestion of lactose in milk. Variants in this gene can lead to lactose intolerance in adults, a condition where the body cannot effectively digest lactose, leading to gastrointestinal symptoms....

LDLRAD3 (Low Density Lipoprotein Receptor Class A Domain Containing 3): This gene encodes a protein that is believed to be involved in lipid metabolism and transport. It shares similarities with low-density lipoprotein receptors, suggesting a role in cholesterol homeostasis. Its exact function, however, remains less understood....

LDLRAD3

LEMD3 (Lamin-Associated Polypeptide 2, Isoform 1): LEMD3 encodes a protein associated with the nuclear envelope and is involved in nuclear structure and organization. Mutations in LEMD3 have been linked to the rare genetic disorder known as Buschke-Ollendorff syndrome, which affects bone and skin....

LEMD3

PRKCE, also known as Protein Kinase C Epsilon, is a vital enzyme belonging to the family of protein kinase C (PKC) isoforms. This particular isoform plays a pivotal role in various cellular processes, including cell proliferation, differentiation, apoptosis, and signal transduction. PRKCE is predominantly found in the cytoplasm of cells, where it exerts its regulatory functions by phosphorylating target proteins. One of the distinguishing features of PRKCE is its involvement in signal transduction pathways, where it acts as a crucial mediator in transmitting extracellular signals to intracellular targets. Through its kinase activity, PRKCE modulates the activity of downstream effector proteins, thereby...

PRKCE

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C6ORF47

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