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GetTested’s DNA Diet & Nutrition test
Optimise your diet based on your unique nutritional needs. GetTested’s DNA Diet & Nutrition offers a comprehensive DNA test providing scientific insights into your personal nutritional needs and the most suitable diet for you. By conducting a detailed analysis of your genes, you can gain invaluable information to customise your diet, lifestyle, and health plan to meet your individual needs.
Health Areas Analysed in GetTested's DNA Diet & Nutrition Test
GetTested's DNA Diet & Nutrition test thoroughly examines several crucial health areas:

Macronutrients (Proteins, Fats, Carbohydrates): Firstly, it reveals how your body may react to different macronutrients, essential for fine-tuning your diet to boost energy and overall health.
Fat Metabolism (Saturated, Unsaturated, Omega-3 Fats): Additionally, the test provides insights into your body's processing of various fats, integral to a well-rounded diet.
Sensitivities and Intolerances (Gluten, Lactose, Alcohol, Caffeine, Histamine): Also, it helps identify possible sensitivities or intolerances, empowering you to make informed dietary decisions.
Vitamins and Minerals: Furthermore, the test uncovers how your body absorbs and utilizes vital vitamins and minerals, crucial for health and avoiding nutrient deficiencies.
Eating Behaviors (Overeating, Sugar Cravings, Snacking): Finally, discover genetic factors related to eating behaviors, offering strategies for healthier eating habits.

Personalized Recommendations
Following the analysis, you won't just get a genetic report but also personalized diet recommendations. These suggestions, customized to your genetic makeup, assist you in making knowledgeable choices for your nutritional needs.
Who Should Consider This Test
Anyone interested in optimizing their health through a genetics-informed diet will find this test ideal. It offers science-based advice for enhancing your nutrition.
Regarding Data Privacy and Sample Material
After analysis, we actively destroy the DNA and sample material. Your data remains completely anonymous, linked only to your unique test ID. Importantly, GetTested values your privacy; we never share or sell your results to third parties. Moreover, you have the option to delete your test results upon receipt.

GetTested’s DNA Diet & Nutrition test 
Optimise your diet based on your unique nutritional needs. GetTested’s DNA Diet & Nutrition offers a comprehensive DNA test providing scientific insights into your personal nutritional needs and the most suitable diet for you. By conducting a detailed analysis of your genes, you can gain invaluable information to customise your diet, lifestyle, and health plan to meet your individual needs. 
Health Areas Analysed in GetTested's DNA Diet & Nutrition Test 
GetTested's DNA Diet & Nutrition test thoroughly examines several crucial health areas:
Macronutrients (Proteins, Fats, Carbohydrates): Firstly, it reveals how your body may react to different macronutrients, essential for fine-tuning your diet to boost energy and overall health. 
Fat Metabolism (Saturated, Unsaturated, Omega-3 Fats): Additionally, the test provides insights into your body's processing of various fats, integral to a well-rounded diet. 
Sensitivities and Intolerances (Gluten, Lactose, Alcohol, Caffeine, Histamine): Also, it helps identify possible sensitivities or intolerances, empowering you to make informed dietary decisions. 
Vitamins and Minerals: Furthermore, the test uncovers how your body absorbs and utilizes vital vitamins and minerals, crucial for health and avoiding nutrient deficiencies. 
Eating Behaviors (Overeating, Sugar Cravings, Snacking): Finally, discover genetic factors related to eating behaviors, offering strategies for healthier eating habits.
Personalized Recommendations 
Following the analysis, you won't just get a genetic report but also personalized diet recommendations. These suggestions, customized to your genetic makeup, assist you in making knowledgeable choices for your nutritional needs. 
Who Should Consider This Test 
Anyone interested in optimizing their health through a genetics-informed diet will find this test ideal. It offers science-based advice for enhancing your nutrition. 
Regarding Data Privacy and Sample Material 
After analysis, we actively destroy the DNA and sample material. Your data remains completely anonymous, linked only to your unique test ID. Importantly, GetTested values your privacy; we never share or sell your results to third parties. Moreover, you have the option to delete your test results upon receipt.

DNA Diet & Nutrition Test

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

APOC1

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

EXTL2

JAML (Junctional Adhesion Molecule Like) is a cell adhesion molecule that plays a key role in regulating the movement of leukocytes across epithelial and endothelial barriers. This process is essential for immune response, allowing immune cells to migrate from the bloodstream into tissues during injury or infection. JAML mediates cell-cell interactions critical for inflammation and immune surveillance, making it an important 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, impacting cell division, movement, and intracellular transport.

KATNIP

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

B3GNTL1

DEXI (Dexamethasone-Induced Protein) is a gene induced by glucocorticoids such as dexamethasone and is associated with immune regulation and cellular stress responses. While its precise function is still under investigation, DEXI may play a role in modulating immune system activity and inflammation.

DEXI

STEAP1B (STEAP Family Member 1B) is a protein belonging 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 numerous physiological functions. While its precise role in human health and disease is still under investigation, 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 critical for muscle contraction. Variants in RYR1 are linked to malignant hyperthermia, a rare but serious reaction to certain anesthetics. Identifying RYR1 mutations can help assess risk and guide safer anesthesia choices during surgery.

RYR1

DOCK10 (Dedicator of Cytokinesis 10) is a gene involved in actin cytoskeleton remodeling, contributing to the activation and movement of immune cells, especially T-cells and B-cells. It plays a key role in regulating immune responses and may have implications in autoimmune conditions and immune system disorders.

DOCK10

ADCY6 (Adenylate Cyclase 6) is a gene that encodes an enzyme responsible for converting ATP into cyclic AMP (cAMP), a vital signaling molecule in the body. cAMP plays a key role in processes such as neurotransmission, hormone signaling, and cellular communication. Through these functions, ADCY6 may influence 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 thought to contribute to 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 the metabolism of alcohol, specifically in converting ethanol to acetaldehyde in the liver. Variations in ADH1C can affect how individuals process alcohol and have been associated with differences in alcohol sensitivity, dependence risk, and related health outcomes.

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 encodes a protein with a still-unclear function. Although research is ongoing, this protein may be involved in important cellular processes such as metabolism, signal transduction, or protein interactions. Its exact role and impact on health are not yet fully understood, but changes in its expression could potentially influence disease development.



C12ORF43

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

Meat from young sheep, commonly consumed in various cuisines. Can cause allergic reactions in some individuals.

Lamb

FHIT (Fragile Histidine Triad Diadenosine Triphosphatase) is a tumor suppressor gene involved in purine metabolism. It plays a key role in maintaining genomic stability, and its loss or alteration has been associated with various cancers, highlighting its importance in preventing tumor development.

FHIT

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

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

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

SLC5A6

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.

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

COL27A1

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

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

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.

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

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

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

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

SLC39A8 (Solute Carrier Family 39 Member 8) is a gene that encodes a transporter protein responsible for the cellular uptake of important divalent metals like zinc and manganese. This protein helps maintain metal ion balance, which is essential for immune function, brain development, and other biological processes. Variations in SLC39A8 have been linked to several health conditions, including congenital disorders affecting 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 associated with certain cancers.

CHD6

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

TAS2R5

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

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 belongs to a family of genes sharing sequence similarity. While its specific functions remain under study and are not yet fully understood, FAM9A is expressed in several tissues, including the brain, testis, and ovaries. This suggests it may play roles in important cellular processes within these organs. Genes in the FAM family often participate in cell signaling, transcription regulation, or protein interactions, though the exact functions of FAM9A continue to be researched.

FAM9A

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

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 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

KAT6B (Lysine Acetyltransferase 6B): KAT6B is a gene that encodes a histone acetyltransferase involved in chromatin remodeling and gene regulation. It plays key roles in development, cell cycle control, and DNA repair. Mutations in KAT6B are linked to rare genetic disorders marked 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 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

SLC35F3 (Solute Carrier Family 35 Member F3) is a gene that encodes a transporter protein from the solute carrier (SLC) family, which is involved in moving molecules across cell membranes. While its exact function and substrates are still under investigation, SLC35F3 is believed 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 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

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 regulates thyroid hormone activity by converting thyroxine (T4) — the inactive form — into triiodothyronine (T3), the active form. Found mainly in the liver, kidney, and thyroid gland, DIO1 plays a key 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 belongs to the VPS10 domain-containing receptor family, involved in protein trafficking and sorting within cells. It plays a key role in the nervous system by regulating the movement of proteins important for synaptic function. Changes in SORCS3 activity have been associated with neurological conditions 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 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

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

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

SRSF6 (Serine And Arginine Rich Splicing Factor 6): SRSF6is a gene that encodes a protein involved in mRNA splicing, a key process for producing diverse proteins from the genome. It helps regulate alternative splicing, influencing gene expression and protein function. Mutations in SRSF6 have been associated with skin and mucosal disorders.

SRSF6

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

GAD2 (Glutamate Decarboxylase 2): GAD2 is crucial for the synthesis of gamma-aminobutyric acid (GABA), an important neurotransmitter in the brain. It plays a role in the regulation of neuronal excitability and has been implicated in disorders 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 moves 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 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

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


FPR1 (Formyl Peptide Receptor 1) is a receptor that plays a key role in the immune system by guiding neutrophils to sites of infection or inflammation. It detects formyl peptides, which act as signals indicating the presence of microbial invaders, helping the body mount 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 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

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, allowing it to be more easily eliminated from the body. AS3MT plays a key role in arsenic metabolism and may influence an individual’s susceptibility to arsenic-related health effects.

AS3MT

ESD (Esterase D) is a gene that encodes an enzyme involved in the breakdown of ester compounds within 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 in 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 related to cell growth and metabolism. It plays a role in cellular transcription control, and changes in GABPB1 expression have been linked to various cancers, reflecting its influence on cell proliferation and survival.



GABPB1

ARSA (Arylsulfatase A) is an enzyme that breaks down sulfatides — complex lipids present in many tissues, particularly in the nervous system. A deficiency in ARSA, often caused by genetic mutations, leads to the buildup of sulfatides and can result in Metachromatic Leukodystrophy (MLD), a rare disorder marked by progressive loss of nerve insulation (demyelination) and severe neurological decline.




ARSA

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

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

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



WNT7B

ARPC1B (Actin Related Protein 2/3 Complex Subunit 1B) is a gene that encodes a component of the ARP2/3 complex, a key regulator of actin cytoskeleton organization and cell movement. It is essential for proper immune cell function and the body’s defense against infections. Mutations in ARPC1B can cause a rare immunodeficiency disorder, known as ARPC1B deficiency, which impairs 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 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.

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

BTN2A2 (Butyrophilin Subfamily 2 Member A2) is a gene that encodes a protein from the butyrophilin family, which is involved in regulating immune responses. This protein plays a role in modulating T-cell activity and may influence 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 important 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 vital signaling molecule. This enzyme helps regulate important cellular functions like neurotransmission and hormone signaling, and it may influence neurological and metabolic processes.

ALPK1

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