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ACKR2 (Atypical Chemokine Receptor 2): Also known as D6, ACKR2 is an atypical chemokine receptor that does not signal in the conventional manner but instead acts to scavenge chemokines from the environment. This function is critical in regulating inflammatory responses and maintaining immune homeostasis. ACKR2's role in clearing chemokines makes it important in controlling the spread of inflammation and has been implicated in various inflammatory diseases, including asthma, psoriasis, and cancer....

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....

AHSG (Alpha-2-HS-Glycoprotein): AHSG, also known as fetuin-A, is a glycoprotein that plays a role in several physiological processes including mineralization inhibition and insulin sensitivity. High levels of AHSG are associated with insulin resistance and metabolic syndrome, making it a potential biomarker for these conditions....

ALDH1A2 (Aldehyde Dehydrogenase 1 Family Member A2): ALDH1A2 is a member of the aldehyde dehydrogenase (ALDH) enzyme family, which plays a crucial role in the metabolism of both endogenous and exogenous aldehydes. Specifically, ALDH1A2 is responsible for the oxidation of retinaldehyde to retinoic acid, a biologically active form of vitamin A. This enzymatic conversion is essential for various developmental processes, including embryogenesis, tissue patterning, and organogenesis, by regulating gene expression and cellular differentiation through retinoic acid signaling pathways. ALDH1A2 expression is particularly prominent in tissues undergoing active morphogenesis, such as the developing limb buds, central nervous system, and sensory organs....

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....

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....

AMBRA1 (Autophagy and Beclin 1 Regulator 1): AMBRA1 is a key regulator of autophagy, a critical cellular process for degrading and recycling cellular components. It plays a vital role in the autophagic response to cellular stress, promoting cell survival under adverse conditions. AMBRA1 interacts with BECN1 (Beclin 1) to initiate the formation of autophagosomes, essential for autophagy. Dysregulation of AMBRA1 has been linked to developmental abnormalities and neurodegenerative diseases, highlighting its importance in cellular homeostasis and disease prevention....

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....

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....

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....

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....

ATP1B3 (ATPase Na+/K+ Transporting Subunit Beta 3): ATP1B3 is part of the Na+/K+ ATPase pump, which is essential for maintaining cellular ion gradients, a critical process for cell volume regulation and electrical excitability. This subunit helps regulate the pump's activity and specificity, contributing to its role in muscle function, nerve transmission, and kidney filtration. Dysregulation or mutations in ATP1B3 have potential implications for cardiovascular diseases and neurological disorders....

ATP8B1 (ATPase Phospholipid Transporting 8B1): ATP8B1 is a gene that encodes a phospholipid transporter located in the liver cell membrane. It plays a crucial role in maintaining the lipid composition of cell membranes and bile. Mutations in ATP8B1 can result in progressive familial intrahepatic cholestasis (PFIC), a group of liver disorders....

ATXN1 (Ataxin 1): ATXN1 encodes a protein called ataxin-1, which is involved in neuronal function. Mutations in this gene, particularly expanded CAG repeats, cause spinocerebellar ataxia type 1 (SCA1), a neurodegenerative disorder characterized by loss of motor coordination and balance. Research into ATXN1 is crucial for understanding and developing treatments for this and similar neurodegenerative diseases....

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....

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....

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....

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....

FBOX21 (F-Box Protein 21): FBOX21 is part of the F-box family of proteins, which play critical roles in the ubiquitin-proteasome system for protein degradation. This system is vital for regulating protein levels within the cell, affecting numerous cellular processes such as cell cycle progression, signal transduction, and apoptosis. FBOX21 specifically is involved in targeting proteins for degradation, thereby maintaining cellular homeostasis. Dysregulation of FBOX21 can lead to various diseases, including cancers, where aberrant protein accumulation or degradation contributes to disease pathogenesis....

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....

MAP3K10 (Mitogen-Activated Protein Kinase Kinase Kinase 10): MAP3K10, also known as MLK2 (Mixed Lineage Kinase 2), is a member of the mitogen-activated protein kinase kinase kinase (MAP3K) family, which plays a pivotal role in signaling pathways that regulate cell proliferation, differentiation, and apoptosis. This kinase acts as an upstream activator of the MAP kinase (MAPK) signaling cascade, responding to extracellular signals and translating them into cellular responses. MAP3K10's involvement is crucial for the development and maintenance of various physiological processes, and its activity is linked to neuronal function, immune responses, and stress responses. Dysregulation of MAP3K10 has been implicated in...

MAP4K1 (Mitogen-Activated Protein Kinase Kinase Kinase Kinase 1): MAP4K1, also known as HPK1 (Hematopoietic Progenitor Kinase 1), is a member of the STE20 kinase family and plays a critical role in immune cell signaling. It is involved in the regulation of T cell activation and differentiation, acting upstream of the MAP kinase signaling pathway. MAP4K1's function in modulating immune responses makes it a potential target for immunotherapy, particularly in autoimmune diseases and cancer....

MC4R (Melanocortin 4 Receptor): MC4R is a G protein-coupled receptor involved in regulating energy homeostasis, appetite, and body weight. Mutations in MC4R are one of the most common genetic causes of obesity due to its role in controlling energy balance. It is a target for developing obesity treatments....

MCUR1 (Mitochondrial Calcium Uniporter Regulator 1): MCUR1 is a gene involved in the regulation of the mitochondrial calcium uniporter (MCU), a protein complex responsible for calcium uptake into mitochondria. Proper mitochondrial calcium levels are crucial for energy production and cell survival. MCUR1's role is essential in maintaining mitochondrial calcium homeostasis....

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....

MICAL2 (Molecule Interacting with CasL 2): MICAL2 is a member of the MICAL family of enzymes, which are known for their role in cytoskeletal dynamics through the oxidation of actin. This enzyme contributes to the regulation of actin filament disassembly, influencing cell shape, migration, and intracellular transport. MICAL2's function is crucial in various cellular processes, including neurite outgrowth, axon guidance, and the regulation of synaptic and vascular structures. By modulating the cytoskeleton, MICAL2 plays a key role in cell communication, differentiation, and movement. Dysregulation of MICAL2 has been linked to cancer progression, neurological disorders, and vascular diseases, highlighting its significance...

MME, also known as Membrane Metallo-Endopeptidase, or neprilysin, is a zinc-dependent metalloprotease enzyme that plays a critical role in the regulation of peptide signaling molecules, particularly in the degradation of biologically active peptides. It is primarily found anchored to the cell membrane of various cell types, including neurons, endothelial cells, and immune cells. One of the primary functions of MME is its role in the degradation of peptides involved in the regulation of blood pressure, such as bradykinin and atrial natriuretic peptide (ANP). MME cleaves these peptides into inactive fragments, thereby regulating their physiological effects and maintaining blood pressure homeostasis. Additionally,...

MOV10L1 (Moloney leukemia virus 10-like protein 1): MOV10L1 is a member of the RNA helicase family and plays a significant role in RNA metabolism and post-transcriptional regulation. This protein is involved in various cellular processes, including RNA interference (RNAi), RNA degradation, and mRNA translation. By unwinding RNA duplexes and facilitating the degradation of target RNAs, MOV10L1 influences gene expression and contributes to the regulation of diverse biological pathways. Additionally, MOV10L1 has been implicated in the restriction of retroviruses and retrotransposons, highlighting its role in innate immunity and genome stability. Dysregulation of MOV10L1 expression or function has been associated with several...

MRPS18C (Mitochondrial Ribosomal Protein S18C): MRPS18C is part of the mitochondrial ribosome, essential for mitochondrial protein synthesis. It's important for the production of proteins that are part of the mitochondrial respiratory chain. Dysfunctions in MRPS18C can affect mitochondrial function and energy metabolism, potentially leading to mitochondrial disorders....

MRPS31 (Mitochondrial Ribosomal Protein S31): MRPS31 is part of the mitochondrial ribosome, involved in mitochondrial protein synthesis. It plays a crucial role in the production of proteins required for mitochondrial function and energy production. Defects in MRPS31 can lead to mitochondrial disorders affecting various body systems....

MSRB2 (Methionine Sulfoxide Reductase B2): MSRB2 is an enzyme involved in the repair of oxidized methionine residues in proteins, protecting cells from oxidative stress and maintaining protein function. It plays a role in antioxidant defense mechanisms and is important for cellular resilience to environmental stresses. Research into MSRB2 focuses on its potential role in aging, neurodegenerative diseases, and conditions related to oxidative damage....

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....

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...

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....

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....

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....

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...

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....

NCLN (Nicalin): NCLN, known as nicalin, is part of a complex that regulates intracellular signaling pathways crucial for developmental processes. It plays a key role in modulating Notch signaling, a pathway involved in cell differentiation, proliferation, and apoptosis. Dysregulation of NCLN or its associated pathways can lead to developmental abnormalities and has been implicated in various diseases, including cancer. NCLN's function in maintaining cellular communication underscores its importance in development and disease....

NCOR1, also known as Nuclear Receptor Corepressor 1, is a critical regulator of gene expression and transcriptional repression. Positioned predominantly within the nucleus of cells, NCOR1 plays a pivotal role in modulating the activity of nuclear receptors and other transcription factors. One of the primary functions of NCOR1 is to act as a corepressor for various nuclear receptors, including thyroid hormone receptors (TRs), retinoic acid receptors (RARs), and peroxisome proliferator-activated receptors (PPARs). By recruiting histone deacetylases (HDACs) and other chromatin-modifying enzymes to target gene promoters, NCOR1 facilitates the formation of repressive chromatin structures, leading to transcriptional silencing. Moreover, NCOR1 is involved in...

NCR3 (Natural Cytotoxicity Triggering Receptor 3): NCR3 is a gene that encodes a natural cytotoxicity receptor expressed on NK cells and certain T cells. NCR3 is involved in the recognition and targeting of infected or abnormal cells for destruction. It plays a role in the innate immune response against viruses and tumor cells....

NDRG2 (N-Myc Downstream Regulated Gene 2): NDRG2 is involved in cell growth and differentiation and has been identified as a tumor suppressor gene. It is involved in stress responses and the inhibition of cell proliferation and is particularly noted for its role in brain and nervous system development. Dysregulation of NDRG2 is associated with several types of cancer. ...

NEO1 (Neogenin 1): Neogenin 1 is a critical cell surface receptor implicated in various cellular processes including cell adhesion, migration, and axon guidance. It belongs to the immunoglobulin superfamily and plays a pivotal role in the development of the nervous system and the regulation of apoptosis. NEO1 acts as a receptor for netrin-1 and other ligands, guiding axonal growth and neuronal migration essential for brain development. Additionally, it is involved in the maintenance of tissue homeostasis and vascular development. Mutations or dysregulation of NEO1 have been associated with a range of developmental disorders and diseases, including cancer progression and metastasis....

NKAIN3 (Na+/K+ Transporting ATPase Interacting 3): NKAIN3 is involved in the regulation of the Na+/K+ ATPase, which is essential for maintaining ion gradients across cell membranes. Its role is important for neuronal function, particularly in regulating neuronal excitability and signal transmission. Dysfunctions in NKAIN3 could affect neural signaling and have implications for neurological disorders....

NKX2-3 (NK2 Homeobox 3): NKX2-3 is a gene encoding a transcription factor that is important for gastrointestinal development and homeostasis. It regulates the expression of genes involved in intestinal epithelial cell differentiation and mucosal immunity. Dysregulation of NKX2-3 has been associated with inflammatory bowel diseases....

NLGN1 (Neuroligin 1): Neuroligin 1, encoded by NLGN1, is a key player in the formation and modulation of synapses in the nervous system. It is crucial for synaptic specialization and the regulation of synaptic strength, impacting learning, memory, and overall brain function. NLGN1 has been a focus in the study of autism spectrum disorders and other neurodevelopmental conditions, given its critical role in synaptic development and plasticity....

NMRK1 (Nicotinamide Riboside Kinase 1): NMRK1 is an enzyme that catalyzes the phosphorylation of nicotinamide riboside to nicotinamide mononucleotide, a key step in the NAD+ biosynthesis pathway. NAD+ is essential for energy metabolism, DNA repair, and cellular signaling. NMRK1's role in NAD+ biosynthesis makes it important for maintaining cellular energy balance and genomic stability, with implications for aging, metabolic disorders, and diseases associated with NAD+ depletion....

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....

NR3C1 (Nuclear Receptor Subfamily 3 Group C Member 1): NR3C1 encodes the glucocorticoid receptor, which mediates the effects of glucocorticoids, a class of steroid hormones. This receptor is involved in diverse processes including stress response, immune function, and metabolism. Dysregulation of NR3C1 is associated with various stress-related disorders, inflammatory conditions, and metabolic diseases. It plays a crucial role in the body's response to stress and inflammation, making it a significant target in the treatment of a range of conditions from autoimmune diseases to psychiatric disorders....

NR4A2 (Nuclear Receptor Subfamily 4 Group A Member 2): NR4A2, also known as Nurr1, is a transcription factor essential for the development and maintenance of dopaminergic neurons in the brain. It's involved in neuroprotection and has been studied in relation to Parkinson's disease and other neurodegenerative disorders....

NRG1 (Neuregulin 1): NRG1 is a signaling protein that is involved in neural development and synaptic plasticity. It plays a crucial role in the development of the nervous system and has been implicated in various neurological and psychiatric disorders, including schizophrenia....

NUDT12 (Nudix Hydrolase 12): NUDT12 is an enzyme that hydrolyzes oxidized nucleotides, preventing their incorporation into DNA and RNA, thus protecting cells from oxidative damage. It plays a role in maintaining genomic integrity and cellular redox balance....

NUP62CL (Nucleoporin 62 C-Terminal Like): NUP62CL is a gene involved in the nuclear pore complex, a critical structure in the nuclear envelope that regulates the transport of molecules between the nucleus and cytoplasm. Alterations in NUP62CL can affect nuclear transport and have potential implications in neurodegenerative diseases and cancers....

OLFM4 (Olfactomedin 4): OLFM4 encodes a secreted protein that is expressed in various tissues, including the gastrointestinal tract. Its functions are not fully understood, but it is associated with the regulation of stem cell proliferation and differentiation in the gut, suggesting a role in tissue regeneration and maintenance....

OPTC (Opticin): OPTC is a glycoprotein found in the eye, particularly in the vitreous humor. It is involved in maintaining the structure of the vitreous body and may play a role in ocular development and diseases....

OR5H14 (Olfactory Receptor Family 5 Subfamily H Member 14): OR5H14 is part of the olfactory receptor gene family, which is responsible for the sense of smell. These receptors detect and bind specific odor molecules. The specific ligands and functional role of OR5H14 in olfaction are not fully understood, but it contributes to the complex and diverse nature of smell perception....

ORM1, also known as Orosomucoid 1 or Alpha-1-acid glycoprotein 1, is a glycoprotein primarily synthesized in the liver and secreted into the bloodstream. It belongs to the acute phase reactant proteins, which are produced in response to inflammation, infection, or tissue injury. One of the primary functions of ORM1 is its role in modulating the immune response and inflammation. During acute-phase reactions, the production of ORM1 is upregulated by pro-inflammatory cytokines, such as interleukin-6 (IL-6) and tumor necrosis factor-alpha (TNF-α). ORM1 plays a regulatory role in inflammation by binding to various substances, including drugs, hormones, and lipids, and modulating their distribution...

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....

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....

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....

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....

PDE5A (Phosphodiesterase 5A): PDE5A encodes a phosphodiesterase enzyme that specifically targets cyclic GMP, a second messenger important in various biological processes. PDE5A is well-known for its role in vascular smooth muscle regulation, and inhibitors of PDE5A are used in treating erectile dysfunction and pulmonary hypertension. Research into PDE5A is significant for cardiovascular and urogenital health....

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....

PSAP (Prosaposin): PSAP is a precursor protein that is cleaved into saposins, which are essential for the normal breakdown of lipids in lysosomes. Deficiencies in saposins can lead to various lysosomal storage disorders, characterized by the accumulation of complex lipids in cells. PSAP mutations are linked to conditions like Gaucher disease, Fabry disease, and metachromatic leukodystrophy....

RAB11FIP2 (RAB11 Family Interacting Protein 2): RAB11FIP2 is involved in intracellular trafficking and plays a key role in the recycling of proteins and membranes from the endocytic recycling compartment. It is important for cellular homeostasis and the proper functioning of membrane traffic systems, with implications in various cellular processes, including signal transduction and immune responses....

RADX (RADX DNA Repair Helicase): RADX is involved in DNA repair, particularly in maintaining genomic stability during DNA replication. It plays a role in the response to DNA damage and is crucial for preventing genomic instability, a key factor in cancer development. RADX is significant in understanding the mechanisms of DNA repair and in cancer research....

RALGDS (Ral Guanine Nucleotide Dissociation Stimulator): RALGDS is a guanine nucleotide exchange factor important in signal transduction pathways. It activates Ral GTPases, playing a role in cell growth and differentiation. Alterations in RALGDS function have been linked to cancer development and progression....

REX1BD (REX1 Basic Domain): REX1BD is a gene associated with a basic domain that may play a role in DNA binding or protein-protein interactions. The specific functions and cellular processes involving REX1BD require further investigation to fully understand its contributions to biology....

RFC4 (Replication Factor C Subunit 4): RFC4 is a part of the replication factor C complex, essential for DNA replication and cell cycle control. It plays a role in the loading of DNA polymerases onto DNA during replication and repair. Dysregulation of RFC4 can contribute to genomic instability and is studied in the context of cancer....

SCAMP1 (Secretory Carrier Membrane Protein 1): SCAMP1 is involved in membrane trafficking processes, particularly in the recycling of membrane proteins and in exocytosis. It plays a crucial role in cellular communication and the transport of substances within cells, which is vital for various cellular functions....

SELENOM (Selenoprotein M): SELENOM is a member of the selenoprotein family, proteins that incorporate selenium. It's predominantly found in the brain and is thought to have antioxidant properties. The exact role of SELENOM in neurological functions is not fully understood, but it may be involved in protecting neurons from oxidative stress, with implications for neurodegenerative diseases....

SERINC2 (Serine Incorporator 2): SERINC2 is part of the SERINC family of proteins, which are involved in the incorporation of serine into membrane lipids, thereby playing a crucial role in the biosynthesis and maintenance of cellular membranes. This protein contributes to various cellular processes, including membrane fluidity, signaling pathways, and the immune response. SERINC2, like its family members, is implicated in the modulation of membrane composition and function, influencing cell proliferation, differentiation, and apoptosis. Its activity is essential for the proper functioning of cells and the maintenance of physiological homeostasis. Dysregulation or mutations in the SERINC2 gene can impact cellular...

SERPINA1 (Serpin Family A Member 1): SERPINA1, also known as alpha-1-antitrypsin, is a major protease inhibitor, primarily produced in the liver, and plays a vital role in protecting the lungs from neutrophil elastase. Deficiency in SERPINA1 can lead to alpha-1 antitrypsin deficiency, a genetic disorder that causes lung diseases like emphysema and chronic obstructive pulmonary disease (COPD), as well as liver diseases. It is crucial in maintaining the balance of proteolytic activity in lung tissues....

SERPINB10 (Serpin Family B Member 10): SERPINB10 is a member of the serpin family of protease inhibitors and plays a role in regulating protease activity in various biological processes. Its specific functions and implications in human disease are not fully understood....

SESN3 (Sestrin 3): SESN3 is part of the sestrin family of stress-responsive proteins and is involved in the regulation of cell growth and metabolism, particularly in response to cellular stress. It plays a role in antioxidant defense and has been linked to metabolic regulation, with implications for diseases like obesity and diabetes....

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....

TMEM258 (Transmembrane Protein 258): TMEM258 is a part of the oligosacch aryltransferase complex, involved in N-linked glycosylation, a process essential for protein folding and stability. It's implicated in the proper functioning of the endoplasmic reticulum and has potential roles in various physiological processes and diseases related to protein misfolding....

TMEM51 (Transmembrane Protein 51): TMEM51 is involved in cellular processes related to membrane organization and trafficking. Its specific functions are not well-defined, but it's believed to play a role in intracellular transport and cell signaling pathways....

TMEM72 (Transmembrane Protein 72): TMEM72 is a less characterized transmembrane protein. Its specific role in cellular processes and potential implications in human diseases are subjects of ongoing research. Transmembrane proteins like TMEM72 often play roles in cellular signaling, transport, and communication, making them significant in various physiological and pathological processes....

TMPRSS4 (Transmembrane Protease, Serine 4): TMPRSS4 is a member of the transmembrane serine protease family, known for its role in processing various proteins involved in physiological and pathological processes. This enzyme is localized on the cell surface, where it participates in the activation of proteins by cleaving peptide bonds. TMPRSS4 has been implicated in several critical biological pathways, including cell migration, invasion, and the regulation of epithelial-mesenchymal transition (EMT), which is pivotal in development, wound healing, and cancer metastasis. Its overexpression is associated with the progression of various cancers, making TMPRSS4 a potential biomarker for cancer diagnosis and prognosis, as...

TMPRSS6 (Transmembrane Serine Protease 6): TMPRSS6 is important in iron regulation, specifically in the control of hepcidin, a key regulator of iron absorption. Mutations in TMPRSS6 can lead to iron-refractory iron deficiency anemia (IRIDA), a condition characterized by anemia that does not respond to oral iron therapy....

TNFRSF11B (Tumor Necrosis Factor Receptor Superfamily Member 11B): TNFRSF11B, also known as osteoprotegerin, is a key regulator of bone metabolism. It acts as a decoy receptor for RANKL, inhibiting osteoclastogenesis and preventing bone resorption. It plays a critical role in bone density and strength, and alterations in its function are linked to osteoporosis and other bone diseases....

TRAPPC9 (Trafficking Protein Particle Complex Subunit 9): TRAPPC9 is a gene associated with a subunit of the trafficking protein particle (TRAPP) complex. This complex is involved in vesicle trafficking within cells, facilitating the movement of proteins and lipids between cellular compartments. TRAPPC9's role in vesicle trafficking is essential for maintaining cellular function and organization....

TRHDE (Thyrotropin-Releasing Hormone Degrading Enzyme): TRHDE encodes an enzyme responsible for the degradation of thyrotropin-releasing hormone, which is important in regulating the thyroid axis. It plays a role in maintaining hormonal balance and has implications in metabolic processes and mood regulation....

TRIB1 (Tribbles Pseudokinase 1): TRIB1 is a gene that encodes a pseudokinase protein belonging to the Tribbles family. Tribbles proteins are involved in the regulation of various signaling pathways, including those related to cellular growth, metabolism, and inflammation. TRIB1 has been associated with lipid metabolism, cardiovascular diseases, and cancer. Its intricate roles in these processes are areas of ongoing research....

TRIB2 (Tribbles Pseudokinase 2): TRIB2 is a member of the tribbles family, involved in various cellular processes, including cell proliferation and survival. It acts as a modulator of signaling pathways and has been implicated in cancer development, particularly in leukemias....

TRIB3 (Tribbles Pseudokinase 3): TRIB3 is involved in various cellular processes, including stress response, cell proliferation, and metabolism. It acts as a modulator of signaling pathways and has been implicated in the development of conditions such as insulin resistance, cancer, and cardiovascular diseases....

TRIB3 (Tribbles Pseudokinase 3): TRIB3 is a pseudokinase that modulates various signaling pathways involved in cell survival, metabolism, and stress responses. It acts as a regulator of cellular stress by modulating pathways related to the unfolded protein response and insulin signaling. Overexpression of TRIB3 has been linked to several conditions, including insulin resistance, cardiovascular diseases, and cancer, by influencing cell proliferation and apoptosis....

TRIM33 (Tripartite Motif Containing 33): TRIM33 is an E3 ubiquitin ligase involved in transcriptional regulation and DNA repair. It plays a role in chromatin remodeling and has been implicated in the regulation of stem cell differentiation and in the suppression of tumorigenesis....

TRIM37 (Tripartite Motif Containing 37): TRIM37 is a gene encoding a protein with E3 ubiquitin ligase activity, involved in protein degradation. It has been implicated in the Mulibrey nanism, a rare growth disorder. The study of TRIM37 is important in understanding growth and developmental disorders and the ubiquitin-proteasome system....

TRIM63 (Tripartite Motif Containing 63): TRIM63, also known as MuRF1, is involved in muscle protein degradation, particularly during muscle atrophy. It targets specific muscle proteins for ubiquitination and subsequent degradation in the proteasome. TRIM63 is important in conditions of muscle wasting such as cachexia, sarcopenia, and heart failure. Understanding its role could aid in developing therapies for muscle-wasting diseases....

TRMO (tRNA Methyltransferase 10 Homolog A): TRMO is a gene involved in tRNA modification. It encodes an enzyme responsible for methylating specific nucleotides in tRNA molecules. tRNA modifications are essential for accurate protein synthesis during translation....

TRMT6, also known as tRNA methyltransferase 6 homolog, is an enzyme involved in the post-transcriptional modification of transfer RNA (tRNA). Specifically, TRMT6 belongs to the class I-like SAM (S-adenosylmethionine)-dependent methyltransferase superfamily and catalyzes the methylation of specific nucleotides within tRNA molecules. One of the primary functions of TRMT6 is its role in the modification of adenosine residues at the wobble position of certain tRNA molecules. This modification is crucial for ensuring accurate and efficient translation of mRNA into protein during the process of protein synthesis. Methylation at the wobble position of tRNA helps stabilize codon-anticodon interactions and contributes to the fidelity...

TRPM6 (Transient Receptor Potential Cation Channel Subfamily M Member 6): TRPM6 is a channel involved in magnesium absorption and homeostasis. It is essential for maintaining proper magnesium balance in the body, and mutations in TRPM6 can lead to hypomagnesemia with secondary hypocalcemia, a condition characterized by low levels of magnesium and calcium in the blood....

TTYH2 (Tweety Family Member 2): TTYH2 is a gene that belongs to the Tweety family of proteins. While the exact functions of TTYH2 are not fully elucidated, it is known to encode a protein with ion channel activity. The Tweety family of proteins has been associated with ion transport across cell membranes, particularly involving chloride ions. These ion channels are thought to play a role in cellular homeostasis and may be involved in processes such as regulation of cell volume and ion balance. Further research is needed to fully understand the specific functions and significance of TTYH2 in cellular physiology and potential...

TUB (Tubby Bipartite Transcription Factor): The TUB gene encodes the Tubby bipartite transcription factor, which is involved in the regulation of appetite and body weight. Mutations in TUB have been linked to obesity and retinal degeneration. This gene is particularly significant in the study of metabolic disorders and eye diseases, providing insights into the genetic components of obesity and vision problems....

TUFM (Tu Translation Elongation Factor, Mitochondrial): TUFM is essential for mitochondrial protein synthesis, playing a role in the translation process within mitochondria. It's important for mitochondrial function and energy production, with potential implications in mitochondrial disorders and conditions related to impaired energy metabolism....

TWIST1 (Twist Family BHLH Transcription Factor 1): TWIST1 is crucial in embryonic development, particularly in mesenchymal cell lineage determination. It plays a role in craniofacial development and is implicated in Saethre-Chotzen syndrome, a congenital disorder characterized by craniosynostosis....