DNA

AADAT, also known as aminoadipate aminotransferase, is a vital enzyme involved in the catabolism of lysine, an essential amino acid. Positioned primarily within the mitochondria of cells, AADAT plays a crucial role in the alpha-aminoadipic semialdehyde (alpha-AASA) pathway, which is responsible for the degradation of lysine. One of the key functions of AADAT is its involvement in the conversion of alpha-aminoadipate semialdehyde (alpha-AASA) to alpha-aminoadipate (AAA), a crucial step in lysine degradation. This enzymatic reaction is essential for the disposal of excess lysine and the generation of intermediates that can be utilized in other metabolic pathways. Moreover, AADAT participates in the synthesis...

AAK1 (AP2-Associated Kinase 1): AAK1 encodes a protein kinase involved in clathrin-mediated endocytosis, a process by which cells internalize molecules from their external environment. AAK1 plays a role in regulating the trafficking and internalization of cell surface receptors and is essential for various cellular functions....

ABCA6 (ATP-Binding Cassette Subfamily A Member 6): ABCA6 is a member of the ATP-binding cassette transporter family and is involved in cellular lipid transport. It plays a role in transporting lipids across cellular membranes and may be associated with lipid metabolism and homeostasis. ...

ABCB4 (ATP Binding Cassette Subfamily B Member 4): ABCB4 is a gene encoding a transporter protein involved in the export of phospholipids from liver cells into bile. This gene is critical for maintaining the composition of bile and preventing the buildup of harmful compounds in the liver. Mutations in ABCB4 can lead to liver diseases, including cholelithiasis...

ABCC5 (ATP-Binding Cassette Subfamily C Member 5): ABCC5 encodes a transporter protein that belongs to the ATP-binding cassette (ABC) transporter superfamily. This protein is involved in the efflux of various substrates from cells and is often associated with drug resistance in cancer. Understanding the role of ABCC5 is crucial for optimizing chemotherapy regimens and developing targeted therapies....

ABCG2 (ATP-Binding Cassette Subfamily G Member 2): ABCG2 encodes a protein involved in cellular transport processes. It is a member of the ATP-binding cassette (ABC) transporter family and is responsible for the efflux of various molecules, including drugs and toxins, out of cells. ABCG2 plays a role in drug resistance and the protection of tissues from harmful substances....

ABHD2 (Abhydrolase Domain Containing 2): ABHD2 is a member of the serine hydrolase superfamily, involved in lipid metabolism and signaling. It acts on various lipid substrates, playing roles in regulating physiological processes such as sperm capacitation, muscle contraction, and thermogenesis. ABHD2's activity in modulating lipid signaling pathways highlights its potential involvement in metabolic disorders and its interest as a target for therapeutic interventions related to fertility, obesity, and metabolic diseases....

ABLIM1 (Actin Binding LIM Protein 1): ABLIM1 encodes a protein that plays a crucial role in the organization of actin cytoskeleton, which is essential for various cellular functions like movement and division. It's particularly important in muscle development and neural processes. Dysfunctions in ABLIM1 have been linked to muscular and neurological disorders....

ABTB1 (Ankyrin Repeat and BTB Domain Containing 1): ABTB1 is a protein that contains both ankyrin repeats and a BTB (POZ) domain, suggesting a role in protein-protein interactions. It is implicated in various cellular processes, including the regulation of transcription and possibly in the development of certain cancers. The full range of functions of ABTB1 is still under investigation....

ACAN (Aggrecan): ACAN is a gene that encodes aggrecan, a large proteoglycan found in the extracellular matrix of cartilage and other connective tissues. It plays a critical role in maintaining the structural integrity of cartilage and is essential for joint function. Mutations in ACAN can lead to skeletal disorders such as spondyloepimetaphyseal dysplasia, which affects bone and cartilage development....

ACOXL (Acyl-CoA Oxidase-Like): ACOXL is closely related to the acyl-CoA oxidase family, which is involved in the β-oxidation of very long-chain fatty acids in peroxisomes. Although the exact metabolic function of ACOXL is less understood compared to other family members, it is believed to play a role in lipid metabolism and the regulation of fatty acid degradation. Understanding ACOXL's function could have implications for metabolic diseases and disorders related to lipid storage and oxidation....

ACP1 (Acid Phosphatase 1, Soluble): ACP1 encodes an enzyme that functions in various cellular processes, including signal transduction and energy metabolism. It has several isoforms with different roles, potentially influencing immune responses and cellular signaling pathways. Variants of ACP1 have been linked to susceptibility to certain autoimmune diseases and metabolic conditions....

ACTL7B (Actin-Like 7B): ACTL7B is a member of the actin family, which are key components of the cytoskeleton in cells. Actins are involved in various cellular functions, including maintaining cell shape, motility, and division. The specific role of ACTL7B in these processes is not fully understood, but it may have implications in cell structure and function, particularly in reproductive cells....

ACTN3: ACTN3, or Alpha-actinin-3, is a gene that encodes a protein primarily found in fast-twitch muscle fibers. These fibers are crucial for rapid and powerful muscle contractions, commonly associated with explosive athletic performance. Variations in this gene, particularly the R577X polymorphism, have been linked to differing capabilities in sprint and endurance activities, making it a gene of interest in sports genetics....

ACVR1 (Activin Receptor Type 1): ACVR1 encodes a receptor for activin, a growth and differentiation factor. It is involved in signaling pathways that regulate cell proliferation and differentiation. Mutations in ACVR1 have been associated with fibrodysplasia ossificans progressiva (FOP), a rare genetic disorder characterized by the abnormal formation of bone in soft tissues....

ACYP2 (Acylphosphatase 2): ACYP2 encodes an enzyme that hydrolyzes acylphosphates, playing a role in energy metabolism. It's particularly involved in muscle physiology, influencing muscle efficiency and endurance. Genetic variations in ACYP2 have been linked to aging processes and age-related disorders, reflecting its role in cellular energy dynamics and possibly in the regulation of lifespan....

ADAM10 (A Disintegrin and Metalloproteinase 10): ADAM10, a member of the ADAM (A Disintegrin And Metalloproteinase) family, is a transmembrane protease involved in diverse cellular processes such as cell adhesion, migration, and signaling. It functions primarily as a sheddase, cleaving the extracellular domain of various cell surface proteins, including growth factors, cytokines, adhesion molecules, and cell surface receptors. ADAM10-mediated proteolysis regulates crucial signaling pathways, including Notch, Eph, and cadherin signaling, influencing cell fate determination, tissue development, and homeostasis. Moreover, ADAM10 plays a pivotal role in synaptic plasticity and neurotransmission in the central nervous system. Dysregulation of ADAM10 activity has been...

ADAM15 (A Disintegrin and Metalloproteinase 15): ADAM15 is a member of the ADAM protein family, which are involved in cell adhesion, migration, and proteolysis of extracellular matrix proteins. ADAM15 may play a role in cell signaling and tissue remodeling....

ADAM17 (A Disintegrin And Metalloproteinase 17): ADAM17, also known as TACE (TNF-alpha converting enzyme), is involved in the shedding of membrane-bound proteins, including growth factors, cytokines, and receptors. It plays a key role in cell signaling, inflammation, and cancer. Dysregulation of ADAM17 activity is implicated in various diseases, including arthritis, cancer, and cardiovascular disorders....

ADAM32 (ADAM Metallopeptidase Domain 32): ADAM32 is part of the ADAM (A Disintegrin And Metalloproteinase) family, which is known for roles in cell adhesion and proteolytic processing of cell surface proteins. These enzymes are involved in various biological processes, including cell signaling, fertilization, and cell migration. ADAM32's specific functions are still being explored, but like other family members, it may play a role in tissue remodeling, cell-cell interactions, and possibly in reproductive processes....

ADAMTS10 (A Disintegrin And Metalloproteinase With Thrombospondin Motifs 10): ADAMTS10 is a member of the ADAMTS protein family, which is involved in the processing and remodeling of extracellular matrix components. ADAMTS10 plays a role in tissue development and repair, particularly in cartilage and bone. Mutations in ADAMTS10 can lead to connective tissue disorders and skeletal abnormalities....

ADAMTS18 (ADAM Metallopeptidase With Thrombospondin Type 1 Motif 18): ADAMTS18 encodes an enzyme involved in the processing of extracellular matrix components. Mutations in this gene have been linked to eye, skin, and skeletal abnormalities, reflecting its role in tissue development and maintenance....

ADAMTS8 (A Disintegrin And Metalloproteinase With Thrombospondin Motifs 8): ADAMTS8 is an enzyme that plays a role in the extracellular matrix's remodeling, crucial for tissue development and repair. It is involved in processes such as angiogenesis and can act as an anti-angiogenic factor, potentially inhibiting tumor growth and metastasis. The study of ADAMTS8 focuses on its implications in cancer and vascular diseases, exploring its function as a mediator in pathological processes....

ADAMTSL1 (ADAMTS Like 1): ADAMTSL1 is a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) family and is known to be involved in extracellular matrix organization and cell-matrix interactions. While its exact physiological role is not fully understood, its structural similarity to metalloproteinases suggests a potential role in tissue remodeling and development. Dysfunctions in ADAMTSL1 or related proteins could impact processes like cell adhesion, migration, and angiogenesis, with potential implications in developmental disorders and various diseases involving the extracellular matrix....

ADAMTSL3 (ADAMTS-Like 3): ADAMTSL3 is part of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) family, proteins involved in extracellular matrix organization and cell-matrix interactions. It is implicated in the modulation of connective tissue structure and has been studied in relation to lung and eye development, as well as in certain connective tissue disorders....

ADARB1 (Adenosine Deaminase RNA-Specific B1): ADARB1 is involved in RNA editing, a post-transcriptional modification process that can alter the sequence of RNA molecules. It plays a role in modifying the properties of RNA, including its stability and function. ADARB1 has implications in neurological disorders and the regulation of gene expression....

ADCY3 (Adenylate Cyclase 3): ADCY3 encodes an enzyme called adenylate cyclase 3, which is responsible for catalyzing the conversion of ATP to cyclic AMP (cAMP). cAMP is a key signaling molecule involved in various cellular processes, including neurotransmission and hormone signaling. ADCY3 plays a role in regulating these processes and has implications in neuropsychiatric disorders and metabolic pathways....

ADCY5 (Adenylate Cyclase 5): ADCY5 encodes an enzyme called adenylate cyclase 5, which is responsible for catalyzing the conversion of ATP to cyclic AMP (cAMP). cAMP is a key signaling molecule involved in various cellular processes, including neurotransmission and hormone signaling. ADCY5 plays a role in regulating these processes and has implications in neuropsychiatric disorders and metabolic pathways....

ADCY6 (Adenylate Cyclase 6): ADCY6 encodes an enzyme called adenylate cyclase 6, which is responsible for catalyzing the conversion of ATP to cyclic AMP (cAMP). cAMP is a key signaling molecule involved in various cellular processes, including neurotransmission and hormone signaling. ADCY6 plays a role in regulating these processes and has implications in neuropsychiatric disorders and metabolic pathways....

ADGRB1 (Adhesion G Protein-Coupled Receptor B1): ADGRB1, also known as BAI1, is a member of the adhesion G protein-coupled receptor family. It's involved in various cellular processes, including phagocytosis of apoptotic cells and synaptic development in the brain. Mutations in ADGRB1 have been linked to certain neurological disorders....

ADGRG6 (Adhesion G Protein-Coupled Receptor G6): ADGRG6, also known as GPR126, is a receptor involved in cell adhesion and signal transduction. It plays a critical role in developmental processes such as myelination of peripheral nerves and cardiac development. Mutations in ADGRG6 have been associated with developmental abnormalities, particularly in the nervous and cardiovascular systems....

ADGRL2 (Adhesion G Protein-Coupled Receptor L2): ADGRL2, also known as latrophilin 2, is part of the adhesion-GPCR family, involved in cell adhesion and communication. It plays a role in the development of the nervous system and has been implicated in certain neurological disorders. ADGRL2's unique mechanism combines G protein-coupled receptor signaling with cell adhesion, making it a point of interest in neurobiological research....

ADGRL3 (Adhesion G Protein-Coupled Receptor L3): ADGRL3 is a gene encoding a protein that belongs to the adhesion G protein-coupled receptor family, which is known for mediating cell-cell interactions and playing a crucial role in the development and function of the nervous system. It is particularly important in brain development and neuronal signaling. Recent research has linked variations in ADGRL3 to neurological disorders, including attention deficit hyperactivity disorder (ADHD), suggesting its significant influence on neural connectivity and brain function....

ADGRL4 (Adhesion G Protein-Coupled Receptor L4, also known as ELTD1): ADGRL4 is implicated in angiogenesis and vascular development. It has been identified as a potential marker and therapeutic target in cancer due to its role in tumor vasculature. By regulating endothelial cell function and contributing to the formation of new blood vessels, ADGRL4 plays a crucial role in both physiological and pathological processes, including wound healing and cancer progression. Research aims to leverage ADGRL4's function for anti-angiogenic therapies in cancer treatment....

CSNK2A1 (Casein Kinase 2 Alpha 1): CSNK2A1 encodes the alpha subunit of casein kinase 2, a serine/threonine protein kinase involved in various cellular processes, including cell growth, proliferation, and signal transduction. Dysregulation of CSNK2A1 has been linked to cancer and developmental disorders....

CST7 (Cystatin F): CST7 encodes a protein inhibitor of cysteine proteases, playing a role in immune regulation. It's particularly important in controlling the activity of proteases in immune cells like lymphocytes and macrophages. Dysregulation of CST7 can impact immune responses and has been linked to immune disorders....

CSTA (Cystatin A): CSTA encodes a cysteine protease inhibitor, playing a critical role in protecting the skin and mucous membranes from protease-mediated damage. It is important in skin integrity and immune defense. Mutations in CSTA can lead to skin disorders and increased susceptibility to certain infections....

CTBP2 (C-Terminal Binding Protein 2): CTBP2 functions as a transcriptional co-repressor and is involved in the regulation of gene expression. It has roles in developmental processes and is implicated in the regulation of pathways related to cancer progression, particularly in its ability to modulate the expression of tumor suppressor genes and oncogenes....

CTDSPL2 (CTD Small Phosphatase Like 2): CTDSPL2 is implicated in the regulation of transcriptional and post-transcriptional processes through its role in RNA polymerase II dephosphorylation. It may influence gene expression, cell cycle progression, and differentiation. While its specific functions are still being elucidated, CTDSPL2's activity is important for understanding cellular growth control and its dysregulation in diseases such as cancer....

CTLA4 (Cytotoxic T-Lymphocyte-Associated Protein 4): CTLA4 encodes a protein that is crucial for regulating immune responses by inhibiting the activation of T cells. CTLA4 competes with the co-stimulatory receptor CD28 for binding to CD80/CD86 on antigen-presenting cells. Its role is to prevent excessive T cell activation and maintain immune tolerance. Dysregulation of CTLA4 is associated with autoimmune diseases....

CTNNA2 (Catenin Alpha 2): CTNNA2 is involved in cell adhesion and signaling pathways. It plays a role in the nervous system, particularly in synaptic plasticity and neuronal connectivity. Mutations or alterations in CTNNA2 have been linked to neurological disorders, highlighting its importance in brain function and development....

CTRC (Chymotrypsin C): CTRC is a gene encoding the enzyme chymotrypsin C, which is involved in the digestion of proteins in the pancreas. Mutations in this gene can lead to chronic pancreatitis, a condition characterized by inflammation and damage to the pancreas. Research on CTRC is vital for understanding pancreatic diseases and developing treatments for pancreatic dysfunction....

CUBN is a multifunctional protein primarily known for its role in the absorption of various nutrients, including vitamin B12 and proteins such as albumin, from the intestinal tract and renal tubules. This large glycoprotein acts as a receptor, facilitating the endocytosis of ligands bound to its extracellular domains. In the kidney, CUBN works in concert with the endocytic receptor megalin to reabsorb filtered proteins and prevent their loss in urine, thereby maintaining protein homeostasis. Additionally, CUBN plays a critical role in the transportation of vitamin B12 across the intestinal epithelium, a process vital for normal cellular function and metabolism. Dysregulation...

CWF19L2 (Cell Cycle And WD Repeat Domain-Containing Protein 19-Like 2): CWF19L2 is a gene that encodes a protein featuring WD repeat domains, which frequently engage in protein-protein interactions. While its precise functions remain under investigation, the presence of WD repeat domains suggests roles in mediating molecular interactions within the cell. Further research is needed to elucidate its specific cellular contributions....

CXCL5 (C-X-C Motif Chemokine Ligand 5): CXCL5 is a chemokine involved in the recruitment of neutrophils to sites of inflammation and injury. It plays a crucial role in the body's innate immune response, mediating the inflammation process in various conditions, including infectious diseases and chronic inflammatory disorders. CXCL5 has also been studied for its role in cancer progression, particularly in promoting tumor growth and metastasis through the recruitment and activation of neutrophils in the tumor microenvironment....

CXCR4 (C-X-C Motif Chemokine Receptor 4): CXCR4 is a gene that codes for a chemokine receptor involved in immune responses and cell migration. It binds to its ligand, CXCL12, and regulates the trafficking of immune cells. CXCR4 is crucial for immune system function and is implicated in various diseases, including cancer and HIV infection....

CYBA (Cytochrome B-245 Alpha Chain): CYBA is an integral part of the NADPH oxidase complex, a key enzyme system in immune cells, especially phagocytes, for generating reactive oxygen species (ROS). These ROS are crucial for the immune system's defense mechanism against pathogens. CYBA mutations can lead to chronic granulomatous disease, a condition characterized by recurrent bacterial and fungal infections due to the inability of phagocytes to produce bactericidal ROS. Understanding CYBA's role is essential in managing and treating this immune deficiency....

CYP19A1, also known as aromatase, is an enzyme that catalyzes the conversion of androgens (such as testosterone) into estrogens (such as estradiol). This process is crucial in the biosynthesis of estrogen, which plays essential roles in various physiological processes, including sexual development, reproduction, bone metabolism, and cardiovascular health. One of the primary functions of CYP19A1 is its role in the synthesis of estrogen from androgens. It is expressed in various tissues, including the ovaries, testes, placenta, adipose tissue, and brain. In females, CYP19A1 is primarily responsible for estrogen production in the ovaries, where it converts androgens produced by the adrenal glands...

CYP2C9 (Cytochrome P450 Family 2 Subfamily C Member 9): CYP2C9 is a key enzyme in the cytochrome P450 enzyme family, responsible for the metabolism of various drugs and endogenous compounds. It plays a significant role in the detoxification and clearance of substances in the liver. Genetic variations in CYP2C9 can affect drug metabolism, influencing drug efficacy and toxicity, and are important considerations in personalized medicine for determining appropriate drug dosages for individual patients....

CYP4F11 (Cytochrome P450 Family 4 Subfamily F Member 11): CYP4F11 is another member of the cytochrome P450 family, involved in the oxidation of fatty acids and drugs. Its role in lipid metabolism and drug detoxification is important for understanding individual differences in drug responses and susceptibility to certain diseases related to lipid metabolism....

CYP4F2 (Cytochrome P450 Family 4 Subfamily F Member 2): CYP4F2 is part of the cytochrome P450 family, involved in metabolizing fatty acids, drugs, and toxins. It plays a role in vitamin K and eicosanoid metabolism, affecting blood clotting and inflammation processes. Genetic variations in CYP4F2 can influence responses to certain medications, especially anticoagulants....

CYP4V2 (Cytochrome P450 Family 4 Subfamily V Member 2): CYP4V2 is an enzyme involved in fatty acid and lipid metabolism. It plays a role in the biosynthesis of fatty acid epoxides, which have various physiological functions, including in the regulation of blood pressure and inflammation. Mutations in CYP4V2 are associated with Bietti's crystalline dystrophy, a rare genetic eye disorder that affects the retina and can lead to progressive vision loss, highlighting its role in ocular health and lipid processing....

D2HGDH (D-2-Hydroxyglutarate Dehydrogenase): D2HGDH is a mitochondrial enzyme crucial in the metabolism of D-2-hydroxyglutarate, a byproduct of cellular metabolism. Its role is to prevent the accumulation of D-2-hydroxyglutarate, which can be harmful in high concentrations. Dysregulation of this enzyme leads to D-2-hydroxyglutaric aciduria, characterized by a wide range of clinical symptoms including developmental delay, epilepsy, and cardiomyopathy....

DAAM2 (Dishevelled Associated Activator Of Morphogenesis 2): DAAM2 is involved in the regulation of cytoskeletal dynamics and cell morphology. It plays a role in processes such as cell migration and tissue morphogenesis....

DAB1 (Disabled Homolog 1): DAB1 is crucial for brain development, particularly in the regulation of neuronal positioning and migration. It's a key player in the Reelin signaling pathway, which is important for the organization of brain structure during development. Mutations in DAB1 can result in neurological disorders due to its critical role in establishing proper neural networks....

DACH1 (Dachshund Homolog 1): DACH1 is a transcription factor that is involved in the regulation of gene expression. It plays a role in various cellular processes, including development and differentiation. DACH1 has been studied in the context of cancer, where it can act as a tumor suppressor or oncogene depending on the cancer type....

DACT1 (Dishevelled-Binding Antagonist of Beta-Catenin 1): DACT1 is involved in the Wnt signaling pathway, which plays a crucial role in embryonic development, cell proliferation, and differentiation. By modulating Wnt signaling, DACT1 influences various aspects of development and tissue homeostasis. Dysregulation of DACT1 expression has been implicated in several cancers, as Wnt signaling is critical for cell growth and differentiation, making it a target for cancer research....

DAP (Death-Associated Protein): DAP is involved in the regulation of cell death, a critical process in development and disease. It plays a role in apoptosis, the programmed cell death mechanism, which is essential for maintaining cellular health and preventing cancer. Understanding the function of DAP is key in studying cell life cycle and in developing therapies for diseases where cell death regulation is disrupted....

DBX1 (Developing Brain Homeobox 1): DBX1 is a transcription factor important in the development of the spinal cord and nervous system. It plays a role in the differentiation of neural progenitor cells and is critical for proper neural development....

DCAF4 (DDB1 And CUL4 Associated Factor 4): DCAF4 is a component of the CUL4-DDB1 ubiquitin ligase complex, which plays a crucial role in protein ubiquitination and degradation, a key mechanism for regulating protein levels within cells. This process is vital for maintaining cellular homeostasis and responding to stress. DCAF4 specifically contributes to the selection of substrates for ubiquitination, influencing cell cycle regulation, DNA repair, and signal transduction. Alterations in the function of components like DCAF4 can lead to cellular dysregulation and have been linked to the development of cancer and other diseases, highlighting its role in proteostasis and cellular integrity....

DCDC2 (Doublecortin Domain Containing 2): DCDC2 is associated with neuronal migration and differentiation, particularly in the developing brain. It has been implicated in dyslexia and other learning disabilities, suggesting its role in cognitive processing and language development....

DCDC2B (Doublecortin Domain Containing 2B): DCDC2B is a member of the doublecortin family, which is involved in neuronal migration and cortical development. Proteins in this family are characterized by doublecortin domains that bind to microtubules, influencing neuronal cell movement and the proper formation of the cerebral cortex. Mutations or dysregulation in DCDC2B may be linked to neurological disorders and developmental abnormalities, highlighting its importance in brain development and function....

DCDC2C (Doublecortin Domain-Containing Protein 2C): DCDC2C is a member of the doublecortin (DCX) family, which is involved in neuronal migration and axon guidance during brain development. DCDC2C's specific role in neuronal processes and its implications in neurodevelopmental disorders are areas of ongoing research....

DCSTAMP (Dendritic Cell-Specific Transmembrane Protein): DCSTAMP is important in the immune system, specifically in the formation of osteoclasts and dendritic cells. It plays a role in cell fusion and communication, crucial for bone remodeling and immune responses. Its dysfunction can affect bone density and immune system regulation....

DDI1 (DNA-Damage Inducible 1 Homolog 1): DDI1 is a protein with roles in DNA repair, cell cycle regulation, and the ubiquitin-proteasome system. It is involved in the response to DNA damage and can act as a ubiquitin-dependent protease, participating in the degradation of certain proteins to maintain cellular integrity. The multifunctional nature of DDI1 suggests its importance in protecting cells from stress and its potential involvement in cancer and other diseases related to DNA damage and repair mechanisms....

DDX58 (DExD/H-Box Helicase 58): DDX58, also known as RIG-I, is a key receptor in the innate immune system that recognizes viral RNA. It plays a pivotal role in the antiviral response by inducing the production of interferons and other inflammatory cytokines upon detection of viral replication. DDX58 is essential for the early immune response to a wide range of RNA viruses....

DEF8 (Differentially Expressed in FDCP 8 Homolog): DEF8 is involved in endocytic trafficking and signal transduction pathways that regulate cellular growth and differentiation. It acts as a scaffold protein, mediating the interaction between components of signaling pathways and endosomes, which is crucial for the proper distribution and function of cell surface receptors. Dysregulation of DEF8 has been implicated in cancer and immune disorders, emphasizing its role in cellular signaling and membrane trafficking....

DES: DES stands for Desmin, a gene that encodes an intermediate filament protein found in muscle cells. Desmin plays a critical role in maintaining the structural integrity and mechanical resilience of muscle cells, particularly in the heart and skeletal muscles. Mutations in DES can lead to various myopathies and cardiomyopathies, reflecting its importance in muscle function and health....

DEXI (Dexamethasone-Induced Protein): DEXI is induced by glucocorticoids like dexamethasone and is involved in immune responses and cellular stress reactions. Its exact role is still being elucidated, but it may be involved in the regulation of immune system functions....

DGKB (Diacylglycerol Kinase Beta): DGKB is an enzyme that converts diacylglycerol into phosphatidic acid, playing a critical role in lipid signaling pathways. It's involved in various cellular processes, including insulin sensitivity, and neurotransmitter signaling. Dysregulation of DGKB has been associated with metabolic disorders and is of interest in the study of diseases like diabetes and obesity....

DHFR (Dihydrofolate Reductase): DHFR, or dihydrofolate reductase, is a critical enzyme involved in the metabolic pathways that synthesize and repair DNA. It catalyzes the reduction of dihydrofolate to tetrahydrofolate, a cofactor for the synthesis of purines, thymidylate, and several amino acids. This process is essential for cell division and growth. Inhibitors of DHFR, such as methotrexate, are widely used in chemotherapy, as they target rapidly dividing cancer cells by blocking DNA synthesis, highlighting DHFR's crucial role in cellular proliferation and cancer treatment....

DIAPH3 (Diaphanous-Related Formin 3): DIAPH3 regulates the actin cytoskeleton and is involved in cell shape changes, migration, and adhesion. It has a role in cytoplasmic division during cell division and is associated with auditory neuropathy and other disorders involving cellular motility....

DIO1, also known as Type 1 Deiodinase, is a crucial enzyme involved in the regulation of thyroid hormone activity. Positioned predominantly within various tissues, including the liver, kidney, and thyroid gland, DIO1 plays a pivotal role in controlling thyroid hormone levels and mediating tissue-specific responses to thyroid hormones. One of the primary functions of DIO1 is its involvement in the activation of thyroid hormones through the conversion of thyroxine (T4), the inactive form of thyroid hormone, into triiodothyronine (T3), the active form. DIO1 accomplishes this by catalyzing the removal of an iodine atom from the outer ring of T4, generating T3,...

DIO2, also known as Type 2 Deiodinase, is a vital enzyme involved in the regulation of thyroid hormone activity. Positioned predominantly within various tissues, including the thyroid gland, brain, and brown adipose tissue, DIO2 plays a pivotal role in controlling thyroid hormone levels and mediating tissue-specific responses to thyroid hormones. One of the primary functions of DIO2 is its involvement in the conversion of thyroxine (T4), the inactive form of thyroid hormone, into triiodothyronine (T3), the active form. DIO2 accomplishes this by catalyzing the removal of an iodine atom from the outer ring of T4, generating T3, which binds to thyroid...

DIO3, also known as Type 3 Deiodinase, is a crucial enzyme involved in the regulation of thyroid hormone activity. Positioned primarily within various tissues, including the liver, brain, and placenta, DIO3 plays a pivotal role in controlling thyroid hormone levels and mediating tissue-specific responses to thyroid hormones. One of the key functions of DIO3 is its ability to catalyze the inactivation of thyroid hormones, particularly thyroxine (T4), by converting it into an inactive metabolite known as reverse triiodothyronine (rT3). This enzymatic activity helps fine-tune thyroid hormone signaling by reducing the availability of active thyroid hormones in target tissues, thereby modulating metabolic...

DIPK2A (Divergent Protein Kinase Domain 2A): DIPK2A is a lesser-known gene with limited information available. It may be involved in kinase activity, impacting cellular signaling pathways....

DKK1 (Dickkopf-1): DKK1 is a secreted protein that acts as an inhibitor of the Wnt signaling pathway, playing a critical role in embryonic development, bone formation, and cancer. By binding to LRP5/6 receptors, DKK1 prevents Wnt from activating its signaling pathway, influencing cell fate determination, proliferation, and differentiation. DKK1 is implicated in bone density regulation and osteoporosis, and its expression is associated with various cancers, making it a target for therapeutic intervention....

DLC1 (Deleted in Liver Cancer 1): DLC1 functions as a tumor suppressor gene and is often inactivated in various types of cancer. It encodes a Rho GTPase-activating protein, involved in regulating cell shape, motility, and proliferation. Restoration of DLC1 function has been explored as a therapeutic approach in cancer treatment....

DLEU7 (Deleted in Lymphocytic Leukemia 7): DLEU7 is a gene that has garnered attention in cancer research, particularly in the context of chronic lymphocytic leukemia. Its name reflects its discovery, where it was found deleted in certain leukemia cases. This gene is thought to play a role in cell cycle regulation and apoptosis, and its deletion or dysfunction may contribute to the development and progression of cancer. Research into DLEU7 offers potential insights into novel therapeutic targets and diagnostic markers for leukemia and possibly other cancers....

DLG2 (Discs Large Homolog 2): The DLG2 gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family, proteins involved in synaptic assembly and function. It is particularly significant in the nervous system, where it contributes to synaptic plasticity and neuronal signaling. Disruptions in DLG2 have been linked to neurological disorders, emphasizing its role in brain function and development....

DLG5 (Discs Large Homolog 5): DLG5 is a member of the Discs Large (DLG) protein family and is involved in the organization of cellular structures and signal transduction at cell junctions. It plays a role in maintaining epithelial cell integrity and may have implications in inflammatory bowel diseases (IBD) such as Crohn's disease....

FCER1A (High Affinity Immunoglobulin E Receptor Subunit Alpha): FCER1A is crucial in allergic reactions, binding to immunoglobulin E (IgE) and activating mast cells and basophils. This activation releases histamine and other mediators of inflammation, leading to allergic symptoms. FCER1A's role in allergies and asthma makes it a focal point for developing treatments that mitigate allergic responses....

FOXK1 (Forkhead Box K1): FOXK1 is a member of the forkhead box (FOX) family of transcription factors, characterized by a distinct DNA-binding forkhead box. FOXK1 plays a pivotal role in regulating gene expression involved in cell growth, proliferation, differentiation, and longevity. Its significance is particularly noted in muscle development and regeneration, as well as in the regulation of metabolic processes. The activity of FOXK1 has been linked to various pathological conditions, including cancer, making it a gene of interest in both developmental biology and disease research....

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....

Latex allergy arises from an adverse immune response to natural rubber latex, a material derived from the sap of the rubber tree. Used in numerous products, from medical devices to everyday items, latex can trigger reactions ranging from skin irritation to severe anaphylaxis in sensitive individuals....

PATJ (Pals1-Associated Tight Junction Protein): PATJ is a protein associated with tight junctions, which are important for maintaining the integrity of epithelial and endothelial cell layers. It plays a role in cell polarity and the formation of cell-cell junctions. PATJ is essential for tissue barrier function....

RNF220 (Ring Finger Protein 220): RNF220 is a member of the ring finger protein family, characterized by its ring finger domain, which is implicated in mediating protein-protein interactions and ubiquitination processes. This enzyme plays a significant role in the ubiquitin-proteasome system, a critical pathway for protein degradation and turnover, which is essential for maintaining cellular homeostasis. Through its E3 ubiquitin ligase activity, RNF220 is involved in targeting specific substrates for degradation, thus regulating various cellular processes including signal transduction, transcriptional control, and the cell cycle. The dysregulation of RNF220 activity can contribute to pathological conditions, such as cancer, neurodegenerative diseases,...

SPPL3 (Signal Peptide Peptidase Like 3): SPPL3 is part of the intramembrane-cleaving protease family, involved in the processing of various transmembrane proteins. It plays a role in cellular signaling and regulation by cleaving the intracellular domains of its substrates, thereby modulating their function. SPPL3 is important in immune system regulation, particularly in the maturation of B cells, and has been implicated in certain autoimmune conditions. Its study is significant for understanding the mechanisms of intramembrane proteolysis and its implications in human health and disease....

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....

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....