SPINT2 (Serine Peptidase Inhibitor, Kunitz Type 2) is a gene that encodes a serine protease inhibitor involved in regulating key cellular processes such as growth, migration, and invasion. Also known as HAI-2, SPINT2 helps control proteolytic activity—particularly by inhibiting matriptase, a protease important for epithelial integrity and signaling. Disruption of SPINT2 function has been linked to tumor development and progression, underscoring its role in maintaining tissue homeostasis and cancer suppression.

SPINT2

CBS (Cystathionine beta-synthase): CBS is an enzyme crucial for sulfur metabolism, playing a key role in converting homocysteine into cysteine. This process supports the production of glutathione, a vital antioxidant that protects cells from oxidative stress. CBS also participates in the transsulfuration pathway, which regulates sulfur-containing amino acids and hydrogen sulfide, a signaling molecule involved in various physiological functions. Proper CBS activity is essential for maintaining cellular redox balance, vascular function, and neurotransmitter regulation. Dysregulation of CBS is associated with metabolic disorders such as homocystinuria and cardiovascular diseases.

PRIMA1 (Proline Rich Membrane Anchor 1): PRIMA1 is a gene that encodes a protein responsible for anchoring acetylcholinesterase to neuronal membranes. This protein plays a crucial role in the breakdown of the neurotransmitter acetylcholine and is essential for regulating cholinergic neurotransmission. It is also a focus of research in neurodegenerative diseases such as Alzheimer’s.

PRIMA1

AHI1 (Abelson Helper Integration Site 1) is a gene involved in ciliogenesis and cellular signaling, essential for proper brain development and function. Mutations in AHI1 are linked to Joubert syndrome — a rare genetic disorder characterized by developmental delays, cerebellar malformations, and neurological impairments.

AHI1

BTN3A2 (Butyrophilin Subfamily 3 Member A2) is a protein that belongs to the butyrophilin family, playing a crucial role in regulating immune responses. BTN3A2 is involved in the activation and differentiation of T cells, which are key players in the body’s immune defense. It contributes to immune surveillance and has been associated with autoimmune diseases and cancer.

BTN3A2

HTR2C (5-Hydroxytryptamine Receptor 2C): HTR2C is a serotonin receptor subtype implicated in the regulation of mood, appetite, and sexual behavior. It plays a role in various CNS functions and is a target for certain psychiatric medications. Dysfunctions or genetic variations in HTR2C have been linked to psychiatric conditions, including depression, anxiety, and schizophrenia, as well as to metabolic disorders....

HTR2C

C10ORF67 (Chromosome 10 Open Reading Frame 67), also known as SASP, is a gene involved in regulating cell proliferation and migration. While its exact molecular function remains unclear, it is linked to signaling pathways that influence cellular senescence and the senescence-associated secretory phenotype (SASP). This connection highlights its potential importance in aging, cancer development, and tissue regeneration.

C10ORF67

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.

HP1BP3 (Heterochromatin Protein 1 Binding Protein 3) is a gene that encodes a protein involved in chromatin structure and gene regulation. It interacts with components of heterochromatin, playing a role in genomic stability, DNA repair, and gene silencing. HP1BP3 may influence cellular differentiation and has potential implications in diseases such as cancer, where these processes are often disrupted.

HP1BP3

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 characterized by developmental delays, neurological issues, and congenital abnormalities.

PIGN

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

SSBP3

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 a key role in maintaining the integrity of epithelial cells and may be associated with conditions such as inflammatory bowel diseases (IBD), including Crohn’s disease.

DLG5

DCAF4 (DDB1 And CUL4 Associated Factor 4) is a critical component of the CUL4-DDB1 ubiquitin ligase complex, which tags proteins for degradation via ubiquitination. This process is vital for regulating protein levels, maintaining cellular homeostasis, and managing stress responses. DCAF4 helps determine the proteins targeted, playing key roles in cell cycle regulation, DNA repair, and signal transduction. Disruptions in DCAF4 function can cause cellular imbalances and have been linked to cancer and other diseases, highlighting its significance in proteostasis and cellular health.

DCAF4

GPSM1 (G Protein Signaling Modulator 1) is a gene that regulates G protein signaling pathways, which are crucial for cellular responses to external signals. It is involved in cell polarization and directional movement. GPSM1 has been researched for its potential role in cancer, especially in tumor cell migration and invasion.

GPSM1

AGMO (Alkylglycerol Monooxygenase) is a gene that encodes an enzyme involved in lipid metabolism, specifically in the breakdown of ether lipids. This enzyme plays a role in regulating bioactive lipids, which affect cell signaling and inflammatory responses. Changes in AGMO activity may be associated with lipid-related disorders and inflammatory conditions.

AGMO

FDX1 (Ferredoxin 1) is a mitochondrial protein involved in electron transport, playing a key role in various metabolic pathways such as steroid hormone synthesis and cellular detoxification. It also contributes to the formation of iron-sulfur clusters — essential cofactors for numerous enzymes. Disruptions in FDX1 function can affect energy production and have been linked to mitochondrial-related diseases.

FDX1

C11ORF21 (Chromosome 11 Open Reading Frame 21) is a gene with a currently unclear or uncharacterized biological function. Although it has been identified through genomic studies, its specific role in cellular activity and potential links to health or disease are still being investigated as part of ongoing research in human genetics.

C11ORF21

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

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.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

ASPRV1 (Aspartic Peptidase, Retroviral-Like 1): ASPRV1 is a gene that encodes an aspartic peptidase enzyme. Its exact function is still under investigation, but it may play a role in proteolytic processes within cells. Ongoing research seeks to better understand its functions and potential implications.

ASPRV1

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

AHSG (Alpha-2-HS-Glycoprotein), also known as fetuin-A, is a glycoprotein involved in various physiological processes, including the inhibition of mineralization and the regulation of insulin sensitivity. Elevated AHSG levels have been associated with insulin resistance and metabolic syndrome, indicating its potential as a biomarker for these conditions.

AHSG

The AGT gene plays a vital role in controlling blood pressure and maintaining the body’s fluid balance. Variations or mutations in the AGT gene can influence the risk of developing hypertension and other cardiovascular diseases. Understanding the function of AGT is essential for managing these health conditions.

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

ACP1 (Acid Phosphatase 1, Soluble) is a gene that encodes an enzyme involved in various cellular processes, including signal transduction and energy metabolism. It exists in multiple isoforms with distinct functions, affecting immune response and cellular signaling. Variations in ACP1 have been linked to a higher risk of certain autoimmune diseases and metabolic disorders.

ACP1

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

SHISA4 (Shisa Family Member 4) is a protein involved in regulating synaptic function and neuronal excitability. It modulates the activity of key receptors in the central nervous system, including AMPA and NMDA receptors, playing a crucial role in neuronal signaling and synaptic plasticity. Due to its role in synaptic modulation, SHISA4 is a focus of research on neurological disorders and synaptic dysfunction.

SHISA4

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

BCAT1

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

EDAR (Ectodysplasin A Receptor) is a receptor that plays a crucial role in the development of skin appendages such as hair, teeth, and sweat glands. Proper functioning of EDAR is essential for the formation of these structures, and mutations in this gene can cause ectodermal dysplasias, a group of disorders characterized by abnormal development of these features.

EDAR

EGR2 (Early Growth Response 2) is a transcription factor that plays a crucial role in regulating the development of the nervous and immune systems. It is especially important for myelination in the peripheral nervous system and helps control cell growth and differentiation. Mutations in EGR2 are associated with Charcot-Marie-Tooth disease and related neuropathies, highlighting its vital role in neural development and function.

EGR2

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

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

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

ALG13 is a gene that encodes a key subunit of the UDP-N-acetylglucosaminyltransferase complex, which is involved in the early stages of glycosylation. Glycosylation is an essential cellular process where carbohydrates are attached to proteins or lipids, influencing their folding, stability, and function. ALG13 plays a vital role in synthesizing the glycan precursor needed for proper protein glycosylation within the endoplasmic reticulum. Mutations in ALG13 are associated with congenital disorders of glycosylation, leading to various clinical issues such as developmental delays, epilepsy, and metabolic problems.

ALG13

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

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

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

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

CYP4V2 (Cytochrome P450 Family 4 Subfamily V Member 2) is an enzyme involved in fatty acid and lipid metabolism, including the formation of fatty acid epoxides that play a role in regulating blood pressure and controlling inflammation. Variants of CYP4V2 are associated with Bietti’s crystalline dystrophy, a rare retinal condition that can lead to progressive vision loss, highlighting its significance in both lipid metabolism and eye health.

CYP4V2

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

GADL1 (Glutamate Decarboxylase Like 1) is a protein related to glutamate decarboxylases, enzymes involved in producing the neurotransmitter GABA. Although its exact function is not yet fully understood, GADL1 is believed to play a role in amino acid metabolism and neurotransmitter synthesis. It is being studied for its potential involvement in neurological function and associated disorders.

GADL1

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

ABCC5 (ATP-binding cassette subfamily C member 5) is a protein that acts as a cellular transporter, moving various molecules out of cells. It is part of the ATP-binding cassette (ABC) transporter superfamily and contributes to drug resistance, especially in cancer. Understanding the activity of ABCC5 is crucial for enhancing chemotherapy effectiveness and developing targeted treatment strategies.

ABCC5

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

AP2A2 (Adaptor-Related Protein Complex 2 Alpha 2 Subunit) is a crucial component of the AP-2 adaptor complex, which plays an essential role in clathrin-mediated endocytosis. This process is vital for the internalization of receptors and proteins into cells, affecting cell signaling and nutrient uptake. Dysregulation of AP2A2 can impair neuronal development and synaptic function, potentially contributing to neurological disorders.

AP2A2

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

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

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

SMIM21

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

GRIN3A (Glutamate Ionotropic Receptor NMDA Type Subunit 3A) is a gene that encodes a subunit of the NMDA receptor, which belongs to the glutamate receptor family. NMDA receptors are crucial for synaptic plasticity, learning, and memory, serving a key role in neuronal communication. Variations in GRIN3A can affect brain function and are of interest in neurological research.

GRIN3A

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

DBX1

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

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

FCER1A (High Affinity Immunoglobulin E Receptor Subunit Alpha) is a gene that encodes a protein crucial for allergic reactions. It binds to immunoglobulin E (IgE) and activates mast cells and basophils, leading to the release of histamine and other inflammatory mediators. This process plays a role in allergy and asthma symptoms, making FCER1A an important target for therapies designed to reduce allergic responses.

FCER1A

ABCA6 (ATP-Binding Cassette Subfamily A Member 6) is a protein that is part of the ATP-binding cassette (ABC) transporter family. It plays a crucial role in transporting lipids across cell membranes, aiding lipid metabolism and maintaining cellular lipid balance.

ABCA6

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

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

ABCG2 (ATP-Binding Cassette Subfamily G Member 2) is a protein that acts as a cellular transporter, moving various molecules — including drugs, toxins, and metabolites — out of cells. As part of the ATP-binding cassette (ABC) transporter family, it plays a crucial role in protecting tissues from harmful substances and contributes to drug resistance.

ABCG2

DTWD2 (DTW Domain Containing 2) is a gene believed to be involved in protein ubiquitination, a process essential for protein degradation and regulation within the cell. Although it is less well understood, DTWD2 likely plays a role in maintaining cellular protein quality control and may affect key functions such as cell cycle regulation and the stress response.

DTWD2

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

PATJ (Pals1-Associated Tight Junction Protein) is a protein associated with tight junctions, which are crucial structures for maintaining the integrity of epithelial and endothelial cell layers. PATJ plays a vital role in establishing cell polarity and forming cell-to-cell junctions. It is essential for preserving tissue barrier function.

PATJ

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

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

ADGRL3 (Adhesion G Protein-Coupled Receptor L3) is a gene that encodes a protein belonging to the adhesion G protein-coupled receptor family, which enables cell-to-cell communication and supports the development and function of the nervous system. It plays a crucial role in brain formation, neuronal signaling, and maintaining neural connectivity. Variations in ADGRL3 have been linked to neurological disorders, including attention deficit hyperactivity disorder (ADHD).

ADGRL3

DAAM2 (Dishevelled Associated Activator of Morphogenesis 2) is a protein that regulates cytoskeletal organization and cell shape. It plays a key role in processes such as cell movement, tissue development, and morphogenesis.

DAAM2

DLEU7 (Deleted in Lymphocytic Leukemia 7) is a gene recognized for its potential role in cancer biology, especially in chronic lymphocytic leukemia (CLL). It is thought to affect key processes such as cell cycle regulation and programmed cell death (apoptosis). Loss or dysfunction of DLEU7 may contribute to cancer development and progression, making it a key focus in research for new diagnostic markers and targeted therapies.

DLEU7

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

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 accumulation of this compound. Dysfunction of D2HGDH is associated with D-2-hydroxyglutaric aciduria, a disorder linked to symptoms such as developmental delays, epilepsy, and heart conditions.

D2HGDH

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

ATP1B2 (Sodium/potassium-transporting ATPase subunit beta-2) is a protein that functions as part of the Na⁺/K⁺-ATPase pump — a crucial enzyme complex responsible for maintaining the balance of sodium and potassium ions across cell membranes. This balance is essential for key physiological processes such as nerve signaling, muscle contraction, and regulation of cell volume. As a beta subunit, ATP1B2 supports the assembly, stability, and membrane localization of the pump through its interaction with the catalytic alpha subunit.

ATP1B2

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

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

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

DDI1 (DNA-Damage Inducible 1 Homolog 1) is a protein involved in essential cellular functions such as DNA repair, cell cycle control, and the ubiquitin-proteasome pathway. It plays a vital role in the response to DNA damage by functioning as a ubiquitin-dependent protease, aiding in the degradation of specific proteins to preserve cellular health. Because of its diverse functions, DDI1 is crucial for protecting cells from stress and may be associated with cancer and other diseases linked to DNA damage and repair.

DDI1

LPP (LIM Domain Containing Preferred Translocation Partner In Lipoma) is a protein involved in regulating cell adhesion, migration, and the organization of the actin cytoskeleton. It plays a key role in forming focal adhesions and stress fibers, which connect the cytoskeleton to the extracellular matrix. LPP’s function is essential for controlling cell movement and maintaining cellular structure. Changes in LPP have been linked to the development of lipomas and other tumors, highlighting its importance in cell biology and cancer research.

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COL27A1

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