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EPS8L3 (Epidermal Growth Factor Receptor Pathway Substrate 8-Like 3) is a gene linked to the epidermal growth factor receptor (EGFR) signaling pathway, which plays a key role in regulating cell growth, survival, and response to external signals. Its involvement suggests potential roles in cellular communication and cancer development. Further research may clarify its functions and relevance in disease progression and therapy.

EPS8L3

SRBD1 (S1 RNA Binding Domain 1) is a gene that encodes an RNA-binding protein involved in post-transcriptional regulation. Such proteins are important for processes like mRNA splicing, transport, and stability. While the precise role of SRBD1 is still being investigated, it may contribute to the regulation of gene expression at the RNA level.

SRBD1

CSTA (Cystatin A) is a gene that encodes a cysteine protease inhibitor involved in protecting tissues like the skin and mucous membranes from protease-related damage. It plays a key role in maintaining skin integrity and supporting immune defense. Mutations in CSTA have been linked to skin disorders and increased vulnerability to infections.

CSTA

CTLA4 (Cytotoxic T-Lymphocyte-Associated Protein 4) is a gene that encodes a protein involved in downregulating immune responses by inhibiting T-cell activation. It competes with CD28 for binding to CD80/CD86 on antigen-presenting cells, helping to maintain immune balance and prevent overactivation. Dysregulation of CTLA4 is linked to autoimmune conditions and impaired immune tolerance.

CTLA4

AMY1A (Amylase, Alpha 1A) is a gene that encodes alpha-amylase, an enzyme responsible for breaking down dietary starches into sugars. Variations in AMY1A copy number are associated with differences in starch digestion and may influence metabolic health and dietary adaptation.

AMY1A

UBE4B (Ubiquitination Factor E4B) is a gene that encodes a protein involved in the ubiquitin-proteasome system, which helps regulate protein degradation and quality control in cells. It plays a key role in removing damaged or misfolded proteins, particularly in neurons. Disruption of UBE4B function has been linked to neurodegenerative diseases, highlighting its importance in cellular stress response and neurological health.

UBE4B

DNAJA4 (DnaJ Heat Shock Protein Family (Hsp40) Member A4) is a molecular chaperone that helps proteins fold correctly and prevents the buildup of misfolded proteins. It plays an important role in the cellular stress response, especially during heat shock, supporting protein stability and cell survival.

DNAJA4

SLK (STE20-like kinase) is a serine/threonine kinase involved in regulating key cellular processes such as proliferation, migration, survival, and cytoskeletal organization. Located mainly in the cytoplasm, SLK influences cell shape and movement by phosphorylating proteins linked to cytoskeletal dynamics, including FAK, paxillin, and cortactin. It plays a central role in signaling pathways that control cell morphology and motility.

DSP (Desmoplakin) is a key protein that acts as a structural linker within cells, essential for the integrity and function of desmosomes—specialized cell-cell adhesion complexes found in epithelial and cardiac tissues. DSP plays a vital role in maintaining mechanical strength and cellular cohesion by anchoring intermediate filaments to desmosomal cadherins. This connection supports tissue stability in areas exposed to high mechanical stress, such as the skin, heart, and certain mucous membranes. Mutations in the DSP gene are linked to various genetic disorders, including cardiomyopathies and skin diseases, underscoring its importance in tissue architecture and function.

ABLIM1 (Actin Binding LIM Protein 1) is a protein that helps organize the actin cytoskeleton — a structural network vital for cell movement, shape, and division. It plays key roles in muscle development and neural function, with disruptions linked to certain muscular and neurological disorders.

ABLIM1

SATB1 (SATB Homeobox 1) is a DNA-binding protein that plays a key role in organizing chromatin structure and regulating gene expression, especially in T cells. It helps shape nuclear architecture by anchoring chromatin loops and controlling genes involved in T cell development and immune function. Changes in SATB1 expression have been linked to immune regulation and various cancers.

SATB1

SOCS2 (Suppressor of Cytokine Signaling 2) is a protein that regulates the cytokine signaling pathway, helping maintain immune balance and prevent excessive inflammation. It modulates signals from growth hormones and various cytokines, influencing cell growth, differentiation, and survival.

SOCS2

ICA1L (Islet Cell Autoantigen 1-Like) is a gene associated with proteins involved in neuroendocrine secretion, particularly in pancreatic beta cells. It is believed to play a role in regulating insulin secretion and may be linked to autoimmune responses in diabetes. Research into ICA1L may offer insights into the development of autoimmune diabetes and potential therapeutic targets.

ICA1L

DLK1 (Delta Like Non-Canonical Notch Ligand 1) is a transmembrane protein that plays a key role in regulating important developmental processes such as adipogenesis and neurogenesis. It functions as a modulator of Notch signaling pathways and is involved in metabolic regulation as well as cancer development.

DLK1

ADAMTSL1 (ADAMTS Like 1) is a gene belonging to the ADAMTS family, known for roles in extracellular matrix organization and cell-matrix interactions. Although its precise function is still being explored, its similarity to metalloproteinases suggests involvement in tissue remodeling, development, and cell signaling. Alterations in ADAMTSL1 may affect processes such as cell adhesion, migration, and angiogenesis, with potential links to developmental and matrix-related disorders.

ADAMTSL1

SORBS3 (Sorbin and SH3 Domain Containing 3), also known as vinexin, is a gene involved in cytoskeletal organization and cell signaling. It helps connect the cytoskeleton to the cell membrane and participates in pathways that regulate cell movement and adhesion. Changes in SORBS3 function may impact cellular structure and have been linked to cancer progression and metastasis.



SORBS3

ACYP2 (Acylphosphatase 2) is a gene that encodes an enzyme involved in hydrolyzing acylphosphates, contributing to cellular energy metabolism. It plays a role in muscle function, potentially affecting muscle efficiency and endurance. Variations in ACYP2 have been associated with aging and age-related conditions, highlighting its potential link to energy regulation and lifespan.

ACYP2

DLC1 (Deleted in Liver Cancer 1) is a tumor suppressor gene that plays a key role in controlling cell behavior. It encodes a Rho GTPase-activating protein, which helps regulate cell shape, movement, and growth. Loss or inactivation of DLC1 is common in various cancers, and restoring its function is being investigated as a potential cancer therapy.

DLC1

ACOXL (Acyl-CoA Oxidase-Like) is a protein related to the acyl-CoA oxidase family, which plays a key role in the β-oxidation of very long-chain fatty acids within peroxisomes. While its exact metabolic function is not yet fully understood, ACOXL is thought to contribute to lipid metabolism and the regulation of fatty acid breakdown. Studying ACOXL may provide insights into metabolic disorders and diseases linked to lipid storage and oxidation.

ACOXL

SLC44A1 (Solute Carrier Family 44 Member 1) is a gene that encodes a protein responsible for transporting choline, an essential nutrient involved in producing the neurotransmitter acetylcholine and maintaining cell membrane structure. This transporter supports key processes like nerve signaling and cell health. Disruptions in choline transport may affect brain function and have been linked to neurological disorders such as Alzheimer’s disease.

SLC44A1

ADGRL4 (Adhesion G Protein-Coupled Receptor L4), also known as ELTD1, is a protein involved in angiogenesis and vascular development. It plays a key role in regulating endothelial cell function and the formation of new blood vessels, influencing processes such as wound healing, cancer progression, and cardiovascular health.

ADGRL4

CSNK1G1 (Casein Kinase 1 Gamma 1) is a gene that encodes a protein from the casein kinase 1 family, involved in key cellular processes such as cell division, circadian rhythm regulation, and Wnt signaling. Through its role in Wnt signaling, CSNK1G1 may influence development and has potential relevance in cancer biology.



CSNK1G1

PDE6C (Phosphodiesterase 6C) is a gene that encodes a subunit of the phosphodiesterase 6 enzyme, which is vital for phototransduction in the retina. This process converts light into electrical signals in photoreceptor cells, enabling vision. Mutations in PDE6C are associated with visual impairments and retinal disorders, highlighting its essential role in visual function.

PDE6C

CWF19L2 (Cell Cycle and WD Repeat Domain-Containing Protein 19-Like 2) is a gene that encodes a protein with WD repeat domains, which are known for facilitating protein-protein interactions. While its exact function is not fully understood, it is believed to play a role in cellular signaling or regulatory processes, with ongoing research aimed at clarifying its specific contributions.

CWF19L2

ACTL7B (Actin-Like 7B) is a member of the actin family, a group of proteins that form key parts of the cell’s cytoskeleton. Actins play important roles in maintaining cell shape, enabling movement, and supporting cell division. While the exact function of ACTL7B is not yet fully understood, it is believed to contribute to cell structure and activity, especially in reproductive cells.

ACTL7B

CSNK2A1 (Casein Kinase 2 Alpha 1) is a gene that encodes the alpha subunit of casein kinase 2, a serine/threonine protein kinase involved in regulating cell growth, proliferation, and signal transduction. Altered activity of CSNK2A1 has been associated with cancer development and certain developmental disorders.

CSNK2A1

CYP2C9 (Cytochrome P450 Family 2 Subfamily C Member 9) is an enzyme that plays a crucial role in metabolizing many drugs and natural compounds in the body. It helps the liver detoxify and clear these substances. Variations in the CYP2C9 gene can affect how individuals process medications, impacting drug effectiveness and side effects, which is important for personalized medicine and dosing decisions.

CYP2C9

GTPBP10 (GTP-binding protein 10) is a gene that encodes a protein involved in cellular regulation through interactions with guanine nucleotides. As a member of the GTP-binding protein family, GTPBP10 is associated with processes such as protein synthesis, ribosome assembly, and mitochondrial function. Although its exact roles are still being studied, it may contribute to GTPase activity and play a part in maintaining cellular and mitochondrial homeostasis.

GTPBP10

DLG2 (Discs Large Homolog 2) is a gene that encodes a protein from the membrane-associated guanylate kinase (MAGUK) family, which is important for synaptic assembly and function. This protein plays a key role in the nervous system by supporting synaptic plasticity and neuronal signaling. Changes in DLG2 have been associated with neurological disorders, highlighting its importance in brain development and function.

DLG2

GALNT13 (Polypeptide N-Acetylgalactosaminyltransferase 13) is a gene that encodes an enzyme involved in the initiation of O-linked glycosylation—a key post-translational modification process. It transfers N-acetylgalactosamine (GalNAc) to specific protein sites in the Golgi apparatus, affecting protein trafficking, secretion, and cell surface interactions. GALNT13 plays a role in cell signaling, adhesion, and immune response, with its dysregulation linked to diseases such as cancer and metabolic disorders.

GALNT13

EDNRA (Endothelin Receptor Type A) is a receptor that binds endothelins, peptides involved in controlling blood vessel constriction and blood pressure. It plays an important role in cardiovascular function and may contribute to the development of cardiovascular diseases.

EDNRA

CTNNA2 (Catenin Alpha 2) is a gene involved in cell adhesion and signaling, playing a key role in the nervous system. It contributes to synaptic plasticity and neuronal connectivity, essential for brain development and function. Alterations in CTNNA2 have been associated with neurological disorders.

CTNNA2

FAAP24 (Fanconi Anemia-Associated Protein 24) is a key protein linked to Fanconi anemia, a rare genetic disorder marked by bone marrow failure and increased cancer risk. FAAP24 plays an essential role in the DNA repair process, helping to maintain genomic stability. It contributes to the complex mechanisms that protect the integrity of our genetic material by coordinating DNA repair activities.

FAAP24

FUT2 (Fucosyltransferase 2) is a gene that encodes an enzyme involved in the synthesis of histo-blood group antigens and the determination of secretor status. It catalyzes the transfer of fucose to specific molecules, enabling the production of glycoproteins and glycolipids found in bodily fluids and epithelial tissues. FUT2 activity influences the expression of the H antigen — a key precursor to ABO blood group antigens — and plays a critical role in whether these antigens are present in secretions like saliva.

FUT2

NIPSNAP3A (Nipsnap Homolog 3A) is a gene that encodes a protein believed to be involved in intracellular trafficking and mitochondrial function. While its exact role remains unclear, it is thought to contribute to cellular metabolism and energy production. Continued research on NIPSNAP3A may offer insights into mitochondrial health and metabolic disorders.



NIPSNAP3A

VMP1 (Vacuole Membrane Protein 1) is a gene involved in autophagy, a key cellular process for breaking down and recycling cellular components. It plays a crucial role in the formation of autophagosomes, which help maintain cellular balance. Dysregulation of VMP1 can disrupt cell homeostasis and has been linked to conditions such as pancreatitis and certain cancers.

VMP1

GSTM3 (Glutathione S-Transferase Mu 3) is a gene that encodes an enzyme from the glutathione S-transferase family, which is involved in detoxifying harmful compounds. It plays a key role in metabolizing carcinogens, drugs, and byproducts of oxidative stress. Variations in GSTM3 may influence individual susceptibility to cancer, neurodegenerative diseases, and other conditions related to detoxification pathways.

GSTM3

CXCR2 (C-X-C Motif Chemokine Receptor 2) is a receptor that binds C-X-C motif chemokines, such as CXCL5, and is mainly found on neutrophils. It plays a critical role in directing neutrophil movement and activation during inflammation. CXCR2 is involved in several pathological conditions, including inflammatory diseases, cancer, and chronic obstructive pulmonary disease (COPD), making it an important target for therapeutic treatments.

CXCR2

VPS37B is a gene that encodes a protein involved in the endosomal sorting complex required for transport (ESCRT) machinery. It plays a key role in intracellular membrane trafficking and protein sorting, particularly in the formation of multivesicular bodies (MVBs). By helping to direct ubiquitinated proteins toward lysosomal degradation, VPS37B contributes to maintaining cellular homeostasis and regulating signal transduction pathways.

VPS37B

ARRB1 (Arrestin Beta 1) is a protein that plays a key role in regulating G protein-coupled receptor (GPCR) signaling. It is involved in the desensitization and internalization of activated GPCRs, helping to turn off downstream signals. ARRB1 is important for processes such as sensory perception, neurotransmission, and hormonal regulation.

ARRB1

IRX6 (Iroquois Homeobox 6) is a gene that encodes a transcription factor from the Iroquois homeobox family, known for its role in early embryonic development. It contributes to the formation and patterning of organs and tissues, particularly in the heart and craniofacial regions. Alterations in IRX6 may be linked to developmental abnormalities and are of interest in studies of congenital and craniofacial disorders.

IRX6

DIAPH3 (Diaphanous-Related Formin 3) is a gene that encodes a protein involved in regulating the actin cytoskeleton, which is essential for cell shape, movement, and adhesion. It also plays a key role in cell division and has been linked to conditions like auditory neuropathy and disorders affecting cellular motility.



DIAPH3

SLC4A4 (Solute Carrier Family 4 Member 4) is a gene that encodes a sodium bicarbonate cotransporter involved in regulating acid-base balance in the body. Mainly expressed in the kidneys and pancreas, it plays a key role in bicarbonate reabsorption and pH regulation. Disruptions in SLC4A4 function can impair the body's ability to maintain acid-base homeostasis, contributing to conditions such as renal tubular acidosis.



SLC4A4

SPINK5 (Serine Peptidase Inhibitor, Kazal Type 5) is a gene that encodes a protein responsible for regulating enzyme activity in the skin. This protein helps maintain skin barrier integrity and supports immune defense. Mutations in SPINK5 are linked to Netherton syndrome, a condition marked by skin inflammation, scaling, and increased allergy risk.


SPINK5

AKR1A1 (Aldo-Keto Reductase Family 1 Member A1) is a gene that encodes an enzyme involved in cellular detoxification and metabolism. It helps reduce aldehydes and ketones, contributing to the regulation of oxidative stress and the breakdown of harmful compounds. AKR1A1 also plays a role in glucose and steroid metabolism, as well as the synthesis of prostaglandins and neurotransmitters, supporting overall cellular balance and defense against oxidative damage.

AKR1A1

DES (Desmin) is a gene that encodes an intermediate filament protein essential for the structural stability of muscle cells. It helps maintain the integrity and function of skeletal and cardiac muscle tissue. Mutations in DES are linked to muscle disorders, including myopathies and cardiomyopathies, highlighting its key role in muscle health.

ADH4 (Alcohol Dehydrogenase 4) is an enzyme belonging to the alcohol dehydrogenase family. It plays a key role in the metabolism of different alcohols, including ethanol. Additionally, ADH4 is involved in converting retinol (vitamin A) into retinaldehyde, a critical step for vision and overall retinoid metabolism.

ADH4

MICB (MHC Class I Polypeptide-Related Sequence B) is a gene that encodes a stress-induced protein involved in immune system activation. It serves as a ligand for the NKG2D receptor on natural killer (NK) cells and some T cells, helping the immune system recognize and respond to infected or transformed cells. MICB expression increases under conditions of cellular stress, such as viral infection or tumor development, promoting immune surveillance and targeted cell destruction.

ASCC3

TPMT (Thiopurine S-Methyltransferase): TPMT is an enzyme that metabolizes thiopurine drugs, such as azathioprine, mercaptopurine, and thioguanine, which are used in autoimmune diseases and cancer treatment. Genetic variations in TPMT affect enzyme activity, influencing drug breakdown and toxicity risk. Individuals with low TPMT activity are at higher risk of severe bone marrow suppression. Testing TPMT helps adjust thiopurine dosage to reduce adverse effects and improve treatment safety.

TPMT

AAK1 (AP2-Associated Kinase 1) is a gene that encodes a protein kinase involved in clathrin-mediated endocytosis — a key process cells use to internalize molecules from their surroundings. AAK1 helps regulate the internalization and trafficking of cell surface receptors, supporting essential cellular functions such as signaling and membrane recycling.

AAK1

SLC24A2 (Solute Carrier Family 24 Member 2) is a gene that encodes a potassium-dependent sodium/calcium exchanger, which helps maintain calcium balance within cells. It is primarily expressed in the retina and brain, indicating important roles in vision and neural function. Changes or malfunctions in SLC24A2 may affect neurological and visual health.



SLC24A2

SLC22A23 (Solute Carrier Family 22 Member 23) is a gene that encodes a transporter protein involved in moving organic ions and small molecules across cell membranes. Although its exact function and substrates are not fully defined, SLC22A23 is believed to contribute to the transport of organic compounds in different tissues, potentially influencing drug metabolism and other physiological processes.





SLC22A23

ARHGAP9 (Rho GTPase Activating Protein 9) is a gene that encodes a protein involved in regulating Rho family GTPases—molecules that control cell shape, movement, and structure. By modulating these signaling pathways, ARHGAP9 plays a role in cell migration, adhesion, and growth. It has been studied in cancer research for its potential influence on tumor cell invasion and metastasis.

ARHGAP9

SLC35F1 (Solute Carrier Family 35 Member F1) is a gene that encodes a protein involved in transporting nucleotide sugars across cellular membranes. These sugars are essential for glycosylation — a key process that modifies proteins, affecting their folding, stability, and function. By supporting proper glycosylation, SLC35F1 plays a vital role in maintaining cellular function, immune response, and potentially influencing disease processes like cancer.



SLC35F1

GFI1 (Growth Factor Independent 1 Transcriptional Repressor) is a gene that encodes a transcriptional repressor involved in regulating hematopoiesis and immune function. It plays a key role in the development of neutrophils and T cells, as well as stem cell differentiation. Disruptions in GFI1 activity have been associated with immune deficiencies and blood-related cancers, highlighting its importance in immune and hematologic health.

GFI1

ADAMTS8 (A Disintegrin And Metalloproteinase With Thrombospondin Motifs 8) is an enzyme involved in remodeling the extracellular matrix, which is essential for tissue development and repair. It plays a role in regulating angiogenesis and may act to inhibit tumor growth and the spread of cancer. Research on ADAMTS8 explores its impact on cancer progression and vascular diseases.

ADAMTS8

SHPRH (SNF2 Histone Linker PHD RING Helicase) is a gene that encodes a DNA helicase involved in repairing DNA damage and maintaining genomic stability. It plays a key role in the DNA damage response by helping fix double-strand breaks, which prevents mutations that could lead to cancer. SHPRH is recognized as a tumor suppressor, with mutations linked to higher risks of various cancers.

SHPRH

BSN (Bassoon Presynaptic Cytomatrix Protein) is a gene that encodes a protein essential for organizing active zones at synaptic terminals. This protein supports neurotransmitter release and plays a key role in synaptic transmission and plasticity, which are critical for learning and memory. Changes in BSN function or expression may affect neurological health and have been linked to neuropsychiatric disorders.

D2HGDH (D-2-Hydroxyglutarate Dehydrogenase) is a mitochondrial enzyme involved in the metabolism of D-2-hydroxyglutarate, a cellular byproduct. It helps prevent the harmful buildup of this compound. Dysfunction of D2HGDH is linked to D-2-hydroxyglutaric aciduria, a condition associated with symptoms such as developmental delays, epilepsy, and heart problems.

D2HGDH

IRS1 (Insulin Receptor Substrate 1) is a key signaling protein that helps mediate the body’s response to insulin and growth factors. Acting as an adaptor, IRS1 connects activated insulin receptors to various downstream pathways, regulating processes like glucose uptake, glycogen synthesis, protein production, and cell growth. Dysregulation of IRS1 is linked to insulin resistance, type 2 diabetes, and may also play roles in cancer and cardiovascular diseases.

IRS1

ADGRB1 (Adhesion G Protein-Coupled Receptor B1) is a protein that belongs to the adhesion G protein-coupled receptor family. Also known as BAI1, it plays important roles in processes such as clearing apoptotic cells (phagocytosis) and supporting synaptic development in the brain.

ADGRB1

NUDT15 (Nudix Hydrolase 15) is an enzyme that plays a key role in the metabolism of thiopurine drugs, including azathioprine, mercaptopurine, and thioguanine. Genetic variations in NUDT15 can reduce its activity, increasing the risk of severe side effects such as bone marrow suppression. Testing for NUDT15 helps guide the appropriate thiopurine dosage to reduce toxicity and enhance treatment safety.

NUDT15

ACVR1 (Activin Receptor Type 1) is a gene that encodes a receptor for activin, a protein involved in regulating cell growth and differentiation. This receptor plays a key role in signaling pathways that control how cells proliferate and develop. Mutations in ACVR1 are linked to fibrodysplasia ossificans progressiva (FOP), a rare genetic disorder marked by abnormal bone formation in soft tissues.

ACVR1

ADAM17 (A Disintegrin and Metalloproteinase 17) is an enzyme that regulates the release of membrane-bound proteins, such as growth factors, cytokines, and receptors. It plays an important role in cell signaling, inflammation, and tissue remodeling, and its dysregulation has been linked to conditions including arthritis, cancer, and cardiovascular disease.

ADAM17

H4C13 (Histone Cluster 4, H4C13) is a gene that encodes a component of histone H4, a core protein essential for chromatin structure in eukaryotic cells. Histones are key regulators of gene expression and DNA repair, playing a vital role in maintaining genomic stability.

H4C13

APBB1IP (Amyloid Beta Precursor Protein-Binding Family B Member 1 Interacting Protein), also known as RIAM, is a protein that plays a key role in integrin activation, which is essential for cell adhesion and migration. By connecting Rap1 GTPases to the actin cytoskeleton, APBB1IP supports cell attachment to the extracellular matrix, influencing immune cell function, wound healing, and tumor metastasis. Its involvement in these processes makes it important for research on immune regulation and cancer.

APBB1IP

SMIM21 (Small Integral Membrane Protein 21) is a gene that encodes a membrane protein with a still unclear role in cellular functions. It may be involved in signaling or transport processes within the cell, but further research is needed to understand its specific functions and potential impact on health and disease.

SMIM21

ADCY3 (Adenylate Cyclase 3) is a gene that encodes an enzyme responsible for converting ATP into cyclic AMP (cAMP), a crucial signaling molecule. ADCY3 plays an important role in regulating cellular processes such as neurotransmission and hormone signaling. It is also implicated in neuropsychiatric disorders and metabolic regulation.

ADCY3

FCER1A (High Affinity Immunoglobulin E Receptor Subunit Alpha) is a gene that encodes a protein essential for allergic reactions. It binds to immunoglobulin E (IgE) and activates mast cells and basophils, triggering the release of histamine and other inflammatory mediators. This process contributes to allergy and asthma symptoms, making FCER1A a key target for therapies aimed at reducing allergic responses.

FCER1A

DOK6 (Docking Protein 6) is a member of the DOK protein family that functions as a substrate and regulator of tyrosine kinases. It plays a key role in signaling pathways involved in nerve cell growth, differentiation, and function, with potential implications in neurological disorders.

DOK6

The AGT gene plays a crucial role in regulating blood pressure and maintaining fluid balance in the body. Variations or mutations in the AGT gene can affect the risk of developing hypertension and other cardiovascular diseases. Understanding the function of AGT is important for managing these health conditions.

ADAMTS18 is a gene that encodes an enzyme involved in the processing of extracellular matrix components. This enzyme plays an important role in tissue development and maintenance. Mutations in ADAMTS18 have been associated with abnormalities in the eyes, skin, and skeleton.

ADAMTS18

SOX4 (SRY-Box Transcription Factor 4) is a transcription factor involved in regulating embryonic development and determining cell fate. It plays essential roles in the development of the heart, pancreas, and lymphocytes. SOX4 also influences cancer progression by regulating cell growth, programmed cell death, and metastasis, highlighting its importance in both development and tumorigenesis.

SOX4

ADAM32 (ADAM Metallopeptidase Domain 32) is a member of the ADAM family of enzymes, which are known for their roles in cell adhesion and proteolytic processing of cell surface proteins. These enzymes contribute to important biological processes such as cell signaling, fertilization, and cell migration. While the specific functions of ADAM32 are still under investigation, it is believed to be involved in tissue remodeling, cell-cell interactions, and potentially reproductive functions.

ADAM32

DACH1 (Dachshund Homolog 1) is a transcription factor that helps regulate gene expression in cells. It plays important roles in processes such as development and cell differentiation. Depending on the context, especially in different types of cancer, DACH1 can function either as a tumor suppressor or an oncogene.

DACH1

ACAN (Aggrecan) is a gene that encodes aggrecan, a key proteoglycan found in the extracellular matrix of cartilage and other connective tissues. Aggrecan is essential for maintaining cartilage structure and ensuring proper joint function. Mutations in ACAN can disrupt bone and cartilage development, leading to skeletal disorders such as spondyloepimetaphyseal dysplasia.

ACAN

KCTD9 (Potassium Channel Tetramerization Domain Containing 9) is a gene that encodes a protein involved in protein-protein interactions and the formation of protein complexes. It may contribute to the regulation of ion channels or other cellular processes through its role in complex assembly and signaling pathways.

KCTD9

AGMO (Alkylglycerol Monooxygenase) is a gene that encodes an enzyme involved in lipid metabolism, particularly in the breakdown of ether lipids. This enzyme contributes to the regulation of bioactive lipids, which influence cell signaling and inflammatory responses. Alterations in AGMO activity may be linked to lipid-related disorders and inflammatory conditions.

AGMO

GPSM1 (G Protein Signaling Modulator 1) is a gene involved in regulating G protein signaling pathways, which are essential for cellular responses to external signals. It plays a role in cell polarization and directional movement. GPSM1 has been studied for its potential involvement in cancer, particularly in tumor cell migration and invasion.

GPSM1

DLG5 (Discs Large Homolog 5) is a protein that belongs to the Discs Large (DLG) family, involved in organizing cellular structures and facilitating signal transmission at cell junctions. It plays an important role in maintaining the integrity of epithelial cells and may be linked to conditions like inflammatory bowel diseases (IBD), including Crohn’s disease.

DLG5

MMUT (Methylmalonyl-CoA Mutase) is a gene that encodes a mitochondrial enzyme essential for energy metabolism. It catalyzes the conversion of methylmalonyl-CoA to succinyl-CoA, a key step in the breakdown of certain amino acids and fatty acids. This reaction supports the citric acid cycle and overall cellular energy production. Mutations in MMUT can lead to methylmalonic acidemia (MMA), a rare metabolic disorder marked by toxic buildup of methylmalonic acid in the body.

MMUT

Death-Associated Protein (DAP) is a key regulator of cell death, playing an important role in apoptosis — the programmed cell death process. This mechanism is essential for maintaining healthy cells and preventing diseases like cancer. Understanding DAP’s function is crucial for studying the cell life cycle and developing treatments for conditions where cell death regulation is impaired.

DCDC2B (Doublecortin Domain Containing 2B) is a protein that belongs to the doublecortin family, known for its role in brain development. Proteins in this family contain doublecortin domains that bind to microtubules, helping guide neuronal migration and proper formation of the cerebral cortex. Proper function of DCDC2B is essential for normal brain development, and changes in this protein may be associated with neurological disorders and developmental issues.

DCDC2B

ATP2B4 is a gene that encodes a calcium pump responsible for removing calcium ions from cells. This pump plays a vital role in maintaining intracellular calcium balance, which is essential for muscle contraction, cell signaling, and nerve function. Proper regulation of ATP2B4 is important for cardiovascular health, and its dysfunction has been linked to heart-related diseases.

ATP2B4

CSF3R (Colony Stimulating Factor 3 Receptor) is a receptor that binds to colony-stimulating factor 3 (CSF3), a cytokine responsible for regulating the production, differentiation, and function of granulocytes. This interaction is essential for the survival and activation of neutrophils, key cells in the body’s innate immune defense. Alterations in CSF3R, such as mutations or overexpression, can disrupt granulocyte function and proliferation, contributing to conditions like chronic neutrophilic leukemia and severe congenital neutropenias.


CSF3R

ARL4A (ADP-Ribosylation Factor-Like 4A) is a protein belonging to the ADP-ribosylation factor (ARF) family of small GTPases. It plays an important role in regulating intracellular vesicle trafficking and membrane dynamics. ARL4A is involved in processes such as membrane remodeling, vesicle formation, and membrane fusion within cells.

ARL4A

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

ADAM15

PIGN (Phosphatidylinositol Glycan Anchor Biosynthesis Class N) is a gene involved in the production of glycosylphosphatidylinositol (GPI) anchors, which attach specific proteins to the cell membrane. These GPI-anchored proteins are essential for processes such as cell adhesion, signal transmission, and immune system function. Mutations in PIGN can disrupt GPI anchor formation, leading to disorders marked by developmental delays, neurological problems, and congenital abnormalities.

PIGN

BTBD7 (BTB Domain Containing 7) is a protein involved in regulating epithelial-mesenchymal transition (EMT), a vital process in embryonic development, tissue repair, and cancer spread. It helps control cell shape and movement by influencing the cell’s internal structure. Dysregulation of BTBD7 is associated with fibrosis and tumor progression, highlighting its role in tissue remodeling and its potential as a therapeutic target in fibrotic diseases and metastatic cancer.


BTBD7

ANAPC4 (Anaphase Promoting Complex Subunit 4) is a protein that forms part of the anaphase-promoting complex/cyclosome (APC/C), a crucial regulator of the cell cycle. It helps tag specific proteins for degradation, thereby controlling the timely progression of cells through different stages of division. Proper function of ANAPC4 is essential for normal cell cycle regulation, and its dysregulation may contribute to abnormalities linked to cancer development and progression.

ANAPC4

DBX1 (Developing Brain Homeobox 1) is a transcription factor that plays a key role in the development of the spinal cord and nervous system. It is essential for guiding the differentiation of neural progenitor cells and ensuring proper formation of neural structures during early development.

DBX1

The UNCX (Unc-4 Homeobox) gene encodes a transcription factor containing a homeobox domain. It plays an essential role in neuronal development by helping specify neuronal identity and guiding axon connections in the developing nervous system.

UNCX

BBX (Bobby Sox Homolog) is a transcriptional regulator that helps control cell proliferation and differentiation. It plays an important role in embryonic development and is involved in regulating circadian rhythms. Proper BBX function is essential for normal development and maintaining regular biological cycles.


SSBP3 (Single Stranded DNA Binding Protein 3) is a protein that binds specifically to single-stranded DNA. It plays an important role in DNA repair and replication, helping to maintain genomic stability. By supporting the cell’s response to DNA damage, SSBP3 is crucial for proper cellular function and has potential implications in cancer biology.

SSBP3

ARL4C (ADP Ribosylation Factor Like GTPase 4C) is a member of the ADP-ribosylation factor family of GTP-binding proteins. It is involved in cellular signaling and membrane trafficking, playing important roles in cytoskeletal organization and cell movement. ARL4C expression has also been associated with the development and progression of certain cancers.

ARL4C

SLC2A9 (Solute Carrier Family 2 Member 9) is a gene that encodes a transporter protein responsible for moving urate in the kidneys. This protein plays a key role in regulating uric acid levels in the blood and is linked to the risk of developing gout.


SLC2A9

SFTPA1 (Surfactant Protein A1) is a gene that encodes a protein essential for lung function. This protein plays a key role in the innate immune defense of the respiratory tract and helps reduce surface tension in the lungs, supporting breathing efficiency.


SFTPA1

SLC6A2 (Solute Carrier Family 6 Member 2) is a protein that functions as the norepinephrine transporter, responsible for the reuptake of norepinephrine into presynaptic nerve terminals. This transporter plays a key role in regulating mood, alertness, and stress response. It is also a target for certain antidepressant medications. Dysfunctions in SLC6A2 are associated with psychiatric and neurological conditions such as depression and attention deficit hyperactivity disorder (ADHD).


SLC6A2

BCAT1 (Branched Chain Amino Acid Transaminase 1) is an important enzyme that helps regulate the metabolism of branched-chain amino acids (BCAAs) — leucine, isoleucine, and valine. It primarily works in the cytosol of brain tissues and certain tumors, where it catalyzes the reversible conversion of BCAAs into their α-keto acids, starting their breakdown process. BCAT1 plays a key role in maintaining nitrogen balance and supporting neurotransmitter production, which influences brain function and development. Additionally, BCAT1 is involved in cancer cell growth and metabolism, making it a potential biomarker for some cancers.


BCAT1

IGF2 (Insulin-Like Growth Factor 2) is a protein that plays a key role in growth and development, especially during fetal stages. It is part of the insulin-like growth factor system, which influences cell growth, proliferation, and survival. IGF2 also supports muscle growth and differentiation, and its activity has been linked to certain cancers due to its role in promoting cell proliferation.

SORBS3

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