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APOC1 (Apolipoprotein C-I) is a protein belonging to the apolipoprotein family, involved in lipid metabolism and transport. It is associated with very low-density lipoproteins (VLDL) and high-density lipoproteins (HDL), helping regulate the breakdown of triglyceride-rich lipoproteins. By inhibiting enzymes such as lipoprotein lipase and hepatic lipase, APOC1 affects blood lipid levels and plays a key role in cardiovascular health. Dysregulation of APOC1 function can contribute to conditions like hyperlipidemia and atherosclerosis.

APOC1

EXTL2 (Exostosin-Like Glycosyltransferase 2) is a gene that encodes an enzyme involved in producing heparan sulfate, a crucial component of the extracellular matrix. Heparan sulfate interacts with various growth factors and signaling molecules, playing key roles in cell proliferation, adhesion, and differentiation. EXTL2’s role in heparan sulfate synthesis highlights its significance in development and maintaining tissue health.

EXTL2

JAML (Junctional Adhesion Molecule Like) is a cell adhesion molecule that plays a crucial role in regulating the movement of leukocytes across epithelial and endothelial barriers. This process is essential for the immune response, allowing immune cells to migrate from the bloodstream into tissues during injury or infection. JAML mediates cell-to-cell interactions vital for inflammation and immune surveillance, making it a key focus for understanding and treating inflammatory diseases and immune disorders.

JAML

KATNIP (Katanin Interacting Protein): KATNIP is a gene that encodes a protein involved in regulating the katanin complex, which is responsible for severing microtubules. Through this interaction, KATNIP may influence microtubule dynamics, affecting cell division, movement, and intracellular transport.

KATNIP

EPHB2 (Ephrin Type-B Receptor 2): EPHB2 is a receptor tyrosine kinase that plays a crucial role in cell-to-cell communication and tissue organization. By interacting with ephrin ligands, EPHB2 regulates key processes such as cell migration, adhesion, and axon guidance during development and throughout life. It is vital for maintaining the structure and function of tissues, particularly in the nervous system and epithelial layers. Dysregulation of EPHB2 signaling has been associated with conditions like cancer progression, neurodevelopmental disorders, and tissue malformations.

EPHB2

B3GNTL1 (Beta-1,3-N-Acetylglucosaminyltransferase Like 1): B3GNTL1 is an enzyme involved in the biosynthesis of complex carbohydrates, specifically contributing to the formation of glycosaminoglycans, which are key components of the extracellular matrix. These enzymes play important roles in cell communication, signaling, and maintaining structural integrity. Although the full biological functions of B3GNTL1 are still being studied, disruptions in glycosaminoglycan synthesis can impact development and are linked to conditions such as cancer and congenital disorders.

B3GNTL1

DEXI (Dexamethasone-Induced Protein) is a gene activated by glucocorticoids such as dexamethasone and is linked to immune regulation and cellular stress responses. Although its exact function is still being studied, DEXI may contribute to modulating immune system activity and inflammation.

DEXI

STEAP1B (STEAP Family Member 1B) is a protein that belongs to the Six Transmembrane Epithelial Antigen of the Prostate (STEAP) family. It is involved in metalloreduction, specifically the reduction of iron and copper ions. STEAP1B plays a role in regulating cellular iron homeostasis and metabolism, which are essential for many physiological functions. Although its exact role in human health and disease is still being studied, STEAP1B may have important implications for understanding iron-related metabolic pathways.

STEAP1B

RYR1 (Ryanodine Receptor 1) is a gene that encodes a calcium channel protein essential for muscle contraction. Variants in RYR1 are associated with malignant hyperthermia, a rare but severe reaction to certain anesthetics. Detecting RYR1 mutations can help evaluate risk and guide safer anesthesia decisions during surgery.

RYR1

DOCK10 (Dedicator of Cytokinesis 10) is a gene involved in remodeling the actin cytoskeleton, contributing to the activation and movement of immune cells, particularly T cells and B cells. It plays a crucial role in regulating immune responses and may be linked to autoimmune diseases and immune system disorders.

DOCK10

ADCY6 (Adenylate Cyclase 6) is a gene that encodes an enzyme responsible for converting ATP into cyclic AMP (cAMP), an essential signaling molecule in the body. cAMP plays a crucial role in processes such as neurotransmission, hormone signaling, and cellular communication. Through these functions, ADCY6 may impact brain activity, metabolic regulation, and neuropsychiatric health.

ADCY6

SLC44A5 (Solute Carrier Family 44 Member 5) is a gene that encodes a membrane transport protein belonging to the solute carrier family. Although its specific functions and substrates are not fully defined, SLC44A5 is believed to play a role in essential cellular transport processes involved in maintaining homeostasis and normal cell function.

SLC44A5

ADH1C (Alcohol Dehydrogenase 1C) is a gene that encodes an enzyme involved in alcohol metabolism, specifically converting ethanol to acetaldehyde in the liver. Variations in ADH1C can influence how individuals metabolize alcohol and have been linked to differences in alcohol sensitivity, risk of dependence, and related health effects.

ADH1C

DIO2 (Type 2 Deiodinase) is a gene that encodes an enzyme essential for thyroid hormone regulation. It converts the inactive thyroid hormone thyroxine (T4) into its active form, triiodothyronine (T3), by removing an iodine atom. Expressed in tissues like the thyroid gland, brain, and brown adipose tissue, DIO2 helps mediate local, tissue-specific responses to thyroid hormones and supports metabolic and developmental processes.

DIO2

C12ORF43 (Chromosome 12 Open Reading Frame 43) is a gene that codes for a protein with an as-yet unclear function. Although research is ongoing, this protein may play a role in key cellular processes such as metabolism, signal transduction, or protein interactions. Its precise role and impact on health are not fully understood, but changes in its expression could potentially affect disease development.

C12ORF43

SRBD1 (S1 RNA Binding Domain 1) is a gene that encodes an RNA-binding protein involved in post-transcriptional regulation. These proteins play key roles in processes such as mRNA splicing, transport, and stability. Although the exact function of SRBD1 is still under study, it may help regulate gene expression at the RNA level.

SRBD1

Meat from young sheep, commonly eaten in various cuisines. It can cause allergic reactions in some people.

Lamb

FHIT (Fragile Histidine Triad Diadenosine Triphosphatase) is a tumor suppressor gene involved in purine metabolism. It plays a crucial role in maintaining genomic stability, and its loss or alteration has been linked to various cancers, underscoring its significance in preventing tumor development.

FHIT

CSTA (Cystatin A) is a gene that encodes a cysteine protease inhibitor involved in protecting tissues such as the skin and mucous membranes from damage caused by proteases. It plays a crucial role in maintaining skin integrity and supporting immune defense. Mutations in CSTA have been associated with skin disorders and increased susceptibility to infections.

CSTA

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 linked to differences in starch digestion and can affect 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, especially in neurons. Disruption of UBE4B function has been linked to neurodegenerative diseases, underscoring its importance in the cellular stress response and neurological health.

UBE4B

SLC5A6 (Solute Carrier Family 5 Member 6): SLC5A6 is a gene that encodes the sodium-dependent vitamin transporter, which is essential for the absorption of biotin (a B-vitamin) and possibly other water-soluble vitamins. This transporter plays a crucial role in maintaining adequate vitamin levels in the body, with deficiencies potentially leading to issues such as skin problems, hair loss, and neurological symptoms.

SLC5A6

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

COL27A1 (Collagen Type XXVII Alpha 1 Chain): COL27A1 is a gene that encodes a collagen protein essential for the structure and function of connective tissues. This type of collagen plays a crucial role in cartilage formation and skeletal development. Mutations in COL27A1 have been associated with disorders affecting bone and cartilage, making it a key focus of research into musculoskeletal health and potential therapeutic targets.

COL27A1

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

SATB1

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. Alterations in SORBS3 function may affect cellular structure and have been associated with cancer progression and metastasis.

SORBS3

SLK (STE20-like kinase) is a serine/threonine kinase that regulates key cellular processes such as proliferation, migration, survival, and cytoskeletal organization. Primarily located in the cytoplasm, SLK affects cell shape and movement by phosphorylating proteins associated with cytoskeletal dynamics, including FAK, paxillin, and cortactin. It plays a central role in signaling pathways that govern cell morphology and motility.

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

ABLIM1

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

DLK1

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

ICA1L

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

CXCR2

SLC39A8 (Solute Carrier Family 39 Member 8) is a gene that encodes a transporter protein responsible for the cellular uptake of key divalent metals such as zinc and manganese. This protein supports the maintenance of metal ion balance, which is vital for immune function, brain development, and various other biological processes. Variations in SLC39A8 have been associated with multiple health conditions, including congenital disorders related to glycosylation.

SLC39A8

CHD6 (Chromodomain Helicase DNA Binding Protein 6) is a gene that encodes a protein involved in chromatin remodeling, which helps regulate gene expression and maintain genomic stability. This protein plays a key role in cellular development and differentiation, and disruptions in its function have been linked to certain cancers.

CHD6

TAS2R5 (Taste 2 Receptor Member 5): TAS2R5 is a bitter taste receptor in humans that plays a crucial role in detecting bitterness. These receptors help identify potentially harmful substances in food. Variations in TAS2R5 and other taste receptors can influence dietary preferences and nutritional choices, which may impact metabolism and overall health.

TAS2R5

ADAMTSL1 (ADAMTS Like 1) is a gene from the ADAMTS family, recognized for its roles in extracellular matrix organization and cell-matrix interactions. While its exact function is still under investigation, its resemblance to metalloproteinases suggests it may be involved in tissue remodeling, development, and cell signaling. Changes in ADAMTSL1 could influence processes like cell adhesion, migration, and angiogenesis, potentially contributing to developmental and matrix-related disorders.

ADAMTSL1

DCSTAMP (Dendritic Cell-Specific Transmembrane Protein) is a gene that encodes a protein involved in immune function and bone health. It plays a key role in the fusion of cells to form osteoclasts and dendritic cells, which are essential for bone remodeling and immune response. Disruption of DCSTAMP can impact bone density and immune system regulation.

DCSTAMP

FAM9A (Family with Sequence Similarity 9 Member A) is a protein-coding gene that is part of a family of genes with shared sequence similarities. Although its specific functions are still being investigated and are not completely understood, FAM9A is expressed in multiple tissues, including the brain, testis, and ovaries. This indicates it may have roles in critical cellular processes within these organs. Genes in the FAM family commonly contribute to cell signaling, transcription regulation, or protein interactions, but the precise functions of FAM9A are still under study.

FAM9A

ACYP2 (Acylphosphatase 2) is a gene that encodes an enzyme responsible for hydrolyzing acylphosphates, which contributes to cellular energy metabolism. It plays a role in muscle function, potentially impacting muscle efficiency and endurance. Variations in ACYP2 have been linked to aging and age-related conditions, emphasizing its possible connection to energy regulation and lifespan.

ACYP2

DLC1 (Deleted in Liver Cancer 1) is a tumor suppressor gene that plays a crucial role in regulating cell behavior. It encodes a Rho GTPase-activating protein, which helps control cell shape, movement, and growth. The loss or inactivation of DLC1 is common in various cancers, and restoring its function is being explored as a potential cancer treatment.

DLC1

ACOXL (Acyl-CoA Oxidase-Like) is a protein associated with the acyl-CoA oxidase family, which plays a crucial role in the β-oxidation of very long-chain fatty acids within peroxisomes. Although its precise metabolic function is not yet fully understood, ACOXL is believed to contribute to lipid metabolism and the regulation of fatty acid breakdown. Research on ACOXL may offer valuable insights into metabolic disorders and diseases related 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 vital processes such as nerve signaling and cell health. Disruptions in choline transport can impact brain function and have been associated with neurological disorders like 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, which plays a role in essential cellular functions such as cell division, regulation of the circadian rhythm, and Wnt signaling. By participating in Wnt signaling, CSNK1G1 may impact development and holds potential significance in cancer biology.

CSNK1G1

FOLH1 (Folate Hydrolase 1), also known as Prostate-Specific Membrane Antigen (PSMA), is a gene involved in folate metabolism and the activation of folate for DNA synthesis and repair. It plays a key role in cell growth and division. FOLH1 is notably expressed in prostate cancer cells, making it a valuable target for cancer diagnosis and therapy.

FOLH1

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

PDE6C

KAT6B (Lysine Acetyltransferase 6B): KAT6B is a gene that encodes a histone acetyltransferase involved in chromatin remodeling and gene regulation. It plays essential roles in development, cell cycle control, and DNA repair. Mutations in KAT6B are associated with rare genetic disorders characterized by skeletal abnormalities and developmental delays, including Genitopatellar and Ohdo syndromes.

KAT6B

CWF19L2 (Cell Cycle and WD Repeat Domain-Containing Protein 19-Like 2) is a gene that encodes a protein featuring WD repeat domains, known for mediating protein-protein interactions. Although its precise function is not fully determined, it is believed to be involved in cellular signaling or regulatory mechanisms, with ongoing studies focused on defining its specific roles.

CWF19L2

SLC35F3 (Solute Carrier Family 35 Member F3) is a gene that encodes a transporter protein belonging to the solute carrier (SLC) family, which is responsible for moving molecules across cell membranes. Although its precise function and substrates are still being studied, SLC35F3 is thought to play a role in cellular transport and metabolic processes.

SLC35F3

ACTL7B (Actin-Like 7B) is a member of the actin family, a group of proteins that form essential components of the cell’s cytoskeleton. Actins play crucial roles in maintaining cell shape, enabling movement, and supporting cell division. While the precise function of ACTL7B is not yet fully understood, it is thought to contribute to cell structure and function, particularly in reproductive cells.

ACTL7B

ENPEP (Glutamyl Aminopeptidase) is a gene that encodes an enzyme involved in regulating blood pressure and fluid balance. It functions within the angiotensin pathway by processing angiotensin II, a molecule that causes blood vessels to constrict. Changes in ENPEP activity have been linked to hypertension and cardiovascular conditions, making it a focus of research in vascular health.

ENPEP

DIO1 (Type 1 Deiodinase) is an enzyme that controls thyroid hormone activity by converting thyroxine (T4) — the inactive form — into triiodothyronine (T3), the active form. Primarily located in the liver, kidney, and thyroid gland, DIO1 plays a crucial role in maintaining optimal thyroid hormone levels and supporting tissue-specific metabolic responses.

DIO1

SORCS3 (Sortilin-Related VPS10 Domain Containing Receptor 3) is a protein that is part of the VPS10 domain-containing receptor family, which is involved in protein trafficking and sorting within cells. It plays a crucial role in the nervous system by regulating the transport of proteins essential for synaptic function. Alterations in SORCS3 activity have been linked to neurological disorders such as Alzheimer's disease and schizophrenia.

SORCS3

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

ARSB (Arylsulfatase B) is an enzyme responsible for breaking down certain glycosaminoglycans, particularly dermatan sulfate. Proper ARSB activity helps prevent the buildup of these molecules in tissues. Deficiency or mutations in ARSB lead to Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome), a condition marked by skeletal abnormalities, organ involvement, and other systemic effects from dermatan sulfate accumulation.

ARSB

CYP2C9 (Cytochrome P450 Family 2 Subfamily C Member 9) is an enzyme that plays a vital role in metabolizing many drugs and natural compounds in the body. It assists the liver in detoxifying and eliminating these substances. Variations in the CYP2C9 gene can influence how individuals process medications, affecting drug efficacy and side effects, which is important for personalized medicine and dosing decisions.

CYP2C9

EPS8L3 (Epidermal Growth Factor Receptor Pathway Substrate 8-Like 3) is a gene associated with the epidermal growth factor receptor (EGFR) signaling pathway, which is essential for regulating cell growth, survival, and response to external stimuli. Its role indicates potential involvement in cellular communication and cancer development. Further studies may clarify its functions and significance in disease progression and treatment.

EPS8L3

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 linked to processes such as protein synthesis, ribosome assembly, and mitochondrial function. Although its precise roles are still under investigation, it may contribute to GTPase activity and play a role 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 essential for synaptic assembly and function. This protein plays a crucial role in the nervous system by supporting synaptic plasticity and neuronal signaling. Alterations in DLG2 have been linked to neurological disorders, underscoring its significance in brain development and function.

DLG2

SRSF6 (Serine And Arginine Rich Splicing Factor 6): SRSF6 is a gene that encodes a protein involved in mRNA splicing, a crucial process for generating diverse proteins from the genome. It helps regulate alternative splicing, affecting gene expression and protein function. Mutations in SRSF6 have been linked to skin and mucosal disorders.

SRSF6

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

GALNT13

EDNRA (Endothelin Receptor Type A) is a receptor that binds endothelins, peptides involved in regulating blood vessel constriction and blood pressure. It plays a crucial 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, which are essential for brain development and function. Alterations in CTNNA2 have been linked to neurological disorders.

CTNNA2

FAAP24 (Fanconi Anemia-Associated Protein 24) is a crucial protein associated with Fanconi anemia, a rare genetic disorder characterized by bone marrow failure and an increased risk of cancer. FAAP24 plays a vital role in the DNA repair process, helping to preserve genomic stability. It is involved in the complex mechanisms that safeguard the integrity of our genetic material by coordinating DNA repair functions.

FAAP24

FUT2 (Fucosyltransferase 2) is a gene that encodes an enzyme involved in synthesizing histo-blood group antigens and determining 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 affects the expression of the H antigen — a key precursor to ABO blood group antigens — and plays a crucial 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. Ongoing research on NIPSNAP3A may provide insights into mitochondrial health and metabolic disorders.

NIPSNAP3A

VMP1 (Vacuole Membrane Protein 1) is a gene involved in autophagy, a vital cellular process responsible for breaking down and recycling cellular components. It plays an essential role in the formation of autophagosomes, which help preserve cellular balance. Dysregulation of VMP1 can disrupt cell homeostasis and has been associated with conditions such as pancreatitis and certain types of cancer.

VMP1

GAD2 (Glutamate Decarboxylase 2): GAD2 is essential for the production of gamma-aminobutyric acid (GABA), a key neurotransmitter in the brain. It contributes to the control of neuronal excitability and has been linked to conditions such as epilepsy and anxiety disorders.

GAD2

ESR1 (Estrogen Receptor Alpha) is a protein that belongs to the nuclear hormone receptor family and functions as a transcription factor. It plays a key role in mediating the effects of estrogen, a steroid hormone, by regulating gene expression in various tissues. ESR1 is typically inactive in the cytoplasm but becomes active and translocates to the cell nucleus upon binding to estrogen, where it influences cellular processes.

ESR1

GSTM3 (Glutathione S-Transferase Mu 3) is a gene that encodes an enzyme in the glutathione S-transferase family, which helps detoxify harmful substances. It plays a crucial role in breaking down carcinogens, drugs, and oxidative stress byproducts. Variations in GSTM3 may affect an individual's risk of developing cancer, neurodegenerative diseases, and other conditions linked to detoxification processes.

GSTM3

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

ARRB1

IRX6 (Iroquois Homeobox 6) is a gene that encodes a transcription factor belonging to the Iroquois homeobox family, known for its role in early embryonic development. It plays a key part in the formation and patterning of organs and tissues, especially in the heart and craniofacial areas. Changes in IRX6 may be associated with developmental abnormalities and are of interest in research on 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 such as 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 the body's acid-base balance. It is primarily expressed in the kidneys and pancreas, playing a crucial role in bicarbonate reabsorption and pH regulation. Disruptions in SLC4A4 function can hinder 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 produces a protein responsible for regulating enzyme activity in the skin. This protein helps preserve the skin’s barrier function and supports the immune defense system. Mutations in SPINK5 are associated with Netherton syndrome, a disorder characterized by skin inflammation, scaling, and a higher risk of allergies.

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 in 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 that belongs to the alcohol dehydrogenase family. It plays a crucial role in metabolizing various alcohols, including ethanol. In addition, ADH4 is involved in the conversion of retinol (vitamin A) into retinaldehyde, an essential 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 activating the immune system. It acts as a ligand for the NKG2D receptor found on natural killer (NK) cells and certain T cells, aiding the immune system in identifying and responding to infected or altered cells. MICB expression rises in response to cellular stress conditions, such as viral infections or tumor growth, enhancing immune surveillance and targeted destruction of affected cells.

ASCC3

TPMT (Thiopurine S-Methyltransferase): TPMT is an enzyme that metabolizes thiopurine drugs like azathioprine, mercaptopurine, and thioguanine, which are used to treat autoimmune diseases and cancer. Genetic variations in TPMT influence enzyme activity, affecting drug metabolism and the risk of toxicity. People with low TPMT activity have a higher risk of severe bone marrow suppression. TPMT testing helps tailor thiopurine dosages to minimize side effects and enhance treatment safety.

TPMT

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

AAK1

FPR1 (Formyl Peptide Receptor 1) is a receptor that plays a crucial role in the immune system by directing neutrophils to sites of infection or inflammation. It recognizes formyl peptides, which serve as signals indicating the presence of microbial invaders, aiding the body in mounting an effective immune response.

FPR1

SLC24A2 (Solute Carrier Family 24 Member 2) is a gene that encodes a potassium-dependent sodium/calcium exchanger, which helps regulate calcium levels within cells. It is mainly expressed in the retina and brain, suggesting key roles in vision and neural function. Alterations or malfunctions in SLC24A2 may impact neurological and visual health.

SLC24A2

AS3MT (Arsenic (+3) Methyltransferase) is a gene that encodes an enzyme involved in the detoxification of arsenic, a toxic environmental metalloid. This enzyme facilitates the methylation of arsenic, enabling it to be more easily eliminated from the body. AS3MT plays a crucial role in arsenic metabolism and may affect an individual’s susceptibility to arsenic-related health effects.

AS3MT

ESD (Esterase D) is a gene that encodes an enzyme involved in breaking down ester compounds in the body. It plays a role in cellular metabolism and detoxification. ESD is also considered a potential biomarker for certain cancers, such as retinoblastoma, and may be useful for studying metabolic pathways and monitoring disease progression.

GABPB1 (GA Binding Protein Transcription Factor Beta Subunit 1) is a gene that encodes a subunit of a transcription factor involved in regulating genes associated with cell growth and metabolism. It plays a role in controlling cellular transcription, and alterations in GABPB1 expression have been linked to various cancers, highlighting its impact on cell proliferation and survival.

GABPB1

ARSA (Arylsulfatase A) is an enzyme that breaks down sulfatides — complex lipids found in many tissues, especially in the nervous system. A deficiency in ARSA, often caused by genetic mutations, results in the accumulation of sulfatides and can lead to Metachromatic Leukodystrophy (MLD), a rare disorder characterized by the progressive loss of nerve insulation (demyelination) and severe neurological deterioration.

ARSA

SLC22A23 (Solute Carrier Family 22 Member 23) is a gene that encodes a transporter protein responsible for moving organic ions and small molecules across cell membranes. While its precise function and substrates are not yet fully understood, SLC22A23 is thought to play a role in transporting organic compounds in various tissues, potentially affecting 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 impact on tumor cell invasion and metastasis.

ARHGAP9

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 crucial role in the development of neutrophils and T cells, as well as stem cell differentiation. Disruptions in GFI1 activity have been linked to immune deficiencies and blood-related cancers, emphasizing its importance in immune and hematologic health.

GFI1

ADAMTS8 (A Disintegrin And Metalloproteinase With Thrombospondin Motifs 8) is an enzyme that plays a role in remodeling the extracellular matrix, which is crucial for tissue development and repair. It helps regulate angiogenesis and may function to inhibit tumor growth and cancer metastasis. Research on ADAMTS8 investigates its effects on cancer progression and vascular diseases.

ADAMTS8

WNT7B (Wnt Family Member 7B) is a gene that plays a key role in the Wnt signaling pathway, which controls essential cellular processes such as growth, differentiation, and programmed cell death. WNT7B is particularly important in embryonic development, bone formation, and blood vessel development. Disruptions in WNT7B signaling have been associated with conditions such as cancer, fibrosis, and developmental disorders.

WNT7B

ARPC1B (Actin Related Protein 2/3 Complex Subunit 1B) is a gene that encodes a part of the ARP2/3 complex, a crucial regulator of actin cytoskeleton organization and cell movement. It is vital for proper immune cell function and the body's defense against infections. Mutations in ARPC1B can lead to a rare immunodeficiency disorder called ARPC1B deficiency, which compromises the immune response.

ARPC1B

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 critical role in the DNA damage response by aiding in the repair of double-strand breaks, which helps prevent mutations that could lead to cancer. SHPRH is known as a tumor suppressor, with mutations linked to an increased risk 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.

IRS1 (Insulin Receptor Substrate 1) is a crucial signaling protein that facilitates the body’s response to insulin and growth factors. Serving as an adaptor, IRS1 links activated insulin receptors to various downstream pathways, controlling processes such as glucose uptake, glycogen synthesis, protein production, and cell growth. Dysregulation of IRS1 is associated with insulin resistance, type 2 diabetes, and may also contribute to cancer and cardiovascular diseases.

IRS1

BTN2A2 (Butyrophilin Subfamily 2 Member A2) is a gene that encodes a protein from the butyrophilin family, which helps regulate immune responses. This protein plays a role in modulating T-cell activity and may affect how the immune system responds to pathogens, antigens, and inflammatory signals.

BTN2A2

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 key roles in processes such as clearing apoptotic cells (phagocytosis) and supporting synaptic development in the brain.

ADGRB1

ADCY5 (Adenylate Cyclase 5) is a gene that encodes an enzyme responsible for converting ATP into cyclic AMP (cAMP), a crucial signaling molecule. This enzyme helps regulate key cellular functions such as neurotransmission and hormone signaling, and it may impact neurological and metabolic processes.

ADCY5

NUDT15 (Nudix Hydrolase 15) is an enzyme that plays a crucial role in the metabolism of thiopurine drugs, including azathioprine, mercaptopurine, and thioguanine. Genetic variations in NUDT15 can decrease its activity, increasing the risk of severe side effects such as bone marrow suppression. Testing for NUDT15 helps guide the right thiopurine dosage to reduce toxicity and improve 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 characterized by abnormal bone formation in soft tissues.

ALPK1

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