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GetTested's Genetic Methylation Mest UK dives deep into your body's methylation processes by examining key genes. This crucial biological process influences gene expression, DNA repair, and detoxification pathways, impacting everything from your energy levels to your mood and immune response. Especially beneficial for those keen on understanding their detoxification ability, facing unexplained health issues, or aiming to enhance their overall health, this test illuminates your body's methylation efficiency.
We analyze genes such as BHMT, MTHFR, COMT, and others to shed light on your methylation handling. This vital process underpins cellular health, potentially affecting your risk for certain conditions, your nutritional needs, and how you respond to environmental toxins.
About the genes in the DNA Methylation test:



BHMT: Contributes to the conversion of homocysteine to methionine, a key process for the body's methylation and detoxification.
BHMT2: Closely related to BHMT and also plays a role in the methylation process by contributing to homocysteine metabolism.
CHDH: Codes for choline dehydrogenase that converts choline to betaine, necessary for methylation and homocysteine clearance.
COMT: Responsible for the breakdown of dopamine and other catecholamines. Affects methylation and is linked to stress response and mood.
DHFR: Dihydrofolate reductase is involved in converting dihydrofolate to tetrahydrofolate, essential for DNA synthesis and repair.
ENOSF1: Associated with the metabolism of vitamin B2 and plays a role in energy production and cellular repair mechanisms.
FOLH1: Plays a role in converting folate to its active form, which is important for DNA synthesis and repair.
GNMT: Contributes to the regulation of SAM-e (S-adenosylmethionine) levels and thus the methylation balance in the body.
MTHFD1: Encodes an enzyme that is involved in the folate metabolism pathway, crucial for generating formate and tetrahydrofolate for DNA synthesis.
MTHFR: Key gene for the production of methylenetetrahydrofolate reductase, crucial for converting folate to methylfolate and the entire methylation cycle.
MTR: Helps convert homocysteine to methionine using folate and vitamin B12, crucial for DNA synthesis.
MTRR: Responsible for regenerating methylcobalamin, ensuring the continuous function of MTR in homocysteine metabolism.
PEMT: Important for the production of phosphatidylcholine, supporting cell membranes and methylation processes by providing choline.
PRXL2A: Less explored in the context of methylation, but may be involved in antioxidative defense mechanisms.
SHMT1: Contributes to the synthesis of serine and glycine and to folate metabolism, affecting DNA methylation and synthesis.
TRDMT1: Plays a role in DNA methylation, a process important for gene expression and genome stability.



How the Genetic Methylation Test Works
Ordering and completing the DNA Methylation test is straightforward:





Order the Test: Get your DNA Methylation test kit delivered directly to your home.
Collect Your Sample: Follow the simple instructions to collect your saliva sample.
Send It Back: Use the prepaid return envelope to send your sample to our laboratory.
Receive Your Results: Within 6-8 weeks, you will receive a detailed digital report, highlighting your methylation pathways with personalized recommendations.





Why Opt for DNA Methylation Testing?
Understanding your methylation status opens the door to tailored dietary and lifestyle adjustments, potentially revealing hidden health issues or optimizing your wellness strategy. This test suits anyone curious about their genetic health, seeking to tailor their lifestyle to their genetics, or dealing with unexplained health challenges.
Sample and Privacy
We ensure the privacy of your DNA and sample by destroying them post-analysis, linking them only to your unique test ID for complete anonymity. The laboratory will not know whom it belongs to, and we do not share the results with any third party. You also have the option to delete your test results after receiving them.

GetTested's Genetic Methylation Mest UK dives deep into your body's methylation processes by examining key genes. This crucial biological process influences gene expression, DNA repair, and detoxification pathways, impacting everything from your energy levels to your mood and immune response. Especially beneficial for those keen on understanding their detoxification ability, facing unexplained health issues, or aiming to enhance their overall health, this test illuminates your body's methylation efficiency. 
We analyze genes such as BHMT, MTHFR, COMT, and others to shed light on your methylation handling. This vital process underpins cellular health, potentially affecting your risk for certain conditions, your nutritional needs, and how you respond to environmental toxins. 
About the genes in the DNA Methylation test:
BHMT: Contributes to the conversion of homocysteine to methionine, a key process for the body's methylation and detoxification. 
BHMT2: Closely related to BHMT and also plays a role in the methylation process by contributing to homocysteine metabolism. 
CHDH: Codes for choline dehydrogenase that converts choline to betaine, necessary for methylation and homocysteine clearance. 
COMT: Responsible for the breakdown of dopamine and other catecholamines. Affects methylation and is linked to stress response and mood. 
DHFR: Dihydrofolate reductase is involved in converting dihydrofolate to tetrahydrofolate, essential for DNA synthesis and repair. 
ENOSF1: Associated with the metabolism of vitamin B2 and plays a role in energy production and cellular repair mechanisms. 
FOLH1: Plays a role in converting folate to its active form, which is important for DNA synthesis and repair. 
GNMT: Contributes to the regulation of SAM-e (S-adenosylmethionine) levels and thus the methylation balance in the body. 
MTHFD1: Encodes an enzyme that is involved in the folate metabolism pathway, crucial for generating formate and tetrahydrofolate for DNA synthesis. 
MTHFR: Key gene for the production of methylenetetrahydrofolate reductase, crucial for converting folate to methylfolate and the entire methylation cycle. 
MTR: Helps convert homocysteine to methionine using folate and vitamin B12, crucial for DNA synthesis. 
MTRR: Responsible for regenerating methylcobalamin, ensuring the continuous function of MTR in homocysteine metabolism. 
PEMT: Important for the production of phosphatidylcholine, supporting cell membranes and methylation processes by providing choline. 
PRXL2A: Less explored in the context of methylation, but may be involved in antioxidative defense mechanisms. 
SHMT1: Contributes to the synthesis of serine and glycine and to folate metabolism, affecting DNA methylation and synthesis. 
TRDMT1: Plays a role in DNA methylation, a process important for gene expression and genome stability.
How the Genetic Methylation Test Works 
Ordering and completing the DNA Methylation test is straightforward:
Order the Test: Get your DNA Methylation test kit delivered directly to your home. 
Collect Your Sample: Follow the simple instructions to collect your saliva sample. 
Send It Back: Use the prepaid return envelope to send your sample to our laboratory. 
Receive Your Results: Within 6-8 weeks, you will receive a detailed digital report, highlighting your methylation pathways with personalized recommendations.
Why Opt for DNA Methylation Testing? 
Understanding your methylation status opens the door to tailored dietary and lifestyle adjustments, potentially revealing hidden health issues or optimizing your wellness strategy. This test suits anyone curious about their genetic health, seeking to tailor their lifestyle to their genetics, or dealing with unexplained health challenges. 
Sample and Privacy 
We ensure the privacy of your DNA and sample by destroying them post-analysis, linking them only to your unique test ID for complete anonymity. The laboratory will not know whom it belongs to, and we do not share the results with any third party. You also have the option to delete your test results after receiving them.

DNA Methylation Test

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

Lamb

CES1 (Carboxylesterase 1): CES1 is an enzyme involved in the metabolism of various drugs, including clopidogrel, methylphenidate, and certain antiviral and chemotherapy agents. Genetic variations in CES1 can affect drug activation and breakdown, influencing both therapeutic effects and the risk of side effects. Testing CES1 can help optimize drug dosing and improve treatment outcomes.

CES1

CYP2C19 (Cytochrome P450 Family 2 Subfamily C Member 19): CYP2C19 is an enzyme involved in metabolizing medications such as proton pump inhibitors, antidepressants, and clopidogrel. Genetic variations affect enzyme activity, influencing drug effectiveness and the risk of side effects. Testing CYP2C19 can help optimize medication dosing and treatment choices.

CYP2C19

VKORC1 (Vitamin K Epoxide Reductase Complex Subunit 1): VKORC1 is an enzyme involved in the recycling of vitamin K, which is essential for blood clotting. Genetic variations in VKORC1 influence sensitivity to vitamin K antagonists like warfarin, affecting dosage requirements and the risk of bleeding. Testing VKORC1 can help personalize anticoagulant therapy for safer and more effective treatment.

VKORC1

CYP3A4 (Cytochrome P450 Family 3 Subfamily A Member 4): CYP3A4 is one of the most important enzymes in drug metabolism, involved in breaking down a wide range of medications, including statins, immunosuppressants, benzodiazepines, and certain chemotherapy drugs. Genetic variations in CYP3A4 can influence drug clearance, affecting both efficacy and the risk of side effects. Testing CYP3A4 can help guide medication dosing for safer and more effective treatment.

CYP3A4

CYP2B6 (Cytochrome P450 Family 2 Subfamily B Member 6): CYP2B6 is an enzyme that plays a role in the metabolism of various drugs, including bupropion, efavirenz, methadone, and certain anesthetics. Genetic variations in CYP2B6 affect enzyme activity, influencing drug breakdown, effectiveness, and the risk of side effects. Testing CYP2B6 can help optimize medication dosing and reduce the likelihood of adverse reactions.

CYP2B6

FAM171A1 (Family With Sequence Similarity 171 Member A1) is a protein-coding gene with limited current characterisation. It is believed to play a role in cellular processes such as protein interactions and signal transduction, although its precise functions in human health and disease are still under investigation.

FAM171A1

WSCD1 (WSC Domain Containing 1) is a gene with limited characterisation in humans, but it is believed to be involved in cellular responses to environmental stress. Although its exact role is not fully understood, WSCD1 may contribute to mechanisms of cellular adaptation and survival under stress-related conditions.

WSCD1

ATF7 (Activating Transcription Factor 7) is a gene that encodes a transcription factor involved in regulating cellular responses to stress. As part of the ATF/CREB family, it helps control gene expression related to apoptosis, development, and neuronal survival. ATF7 activity is important for maintaining cellular balance, and its dysregulation has been linked to stress-related conditions such as neurodegenerative diseases and cancer.

ATF7

WNT7B (Wnt Family Member 7B) is a gene involved in the Wnt signalling pathway, which plays a key role in embryonic development, cell growth, and tissue regeneration. WNT7B helps regulate gene expression and cell behaviour. Dysregulation of WNT7B signalling has been linked to developmental disorders, fibrosis, and cancer, highlighting its importance in cell proliferation and disease progression.

WNT7B

FAM160A2 (Family with Sequence Similarity 160 Member A2) is a gene for which there is currently limited characterised information. While its exact biological role remains unclear, ongoing research seeks to uncover its function and potential importance in human health and disease.

FAM160A2

BAIAP2L1 (Brain-specific angiogenesis inhibitor 1-associated protein 2-like 1) is a gene that encodes a protein involved in cellular structure and signalling. As a member of the I-BAR domain-containing protein family, BAIAP2L1 plays a key role in actin cytoskeleton remodelling, membrane shaping, and cell movement. Its I-BAR domain enables interaction with actin filaments and membrane phospholipids, contributing to the formation of dynamic structures like filopodia and lamellipodia.

BAIAP2L1

ATP1B2 (Sodium/potassium-transporting ATPase subunit beta-2) is a protein that functions as part of the Na⁺/K⁺-ATPase pump — a vital 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 signalling, muscle contraction, and cell volume regulation. As a beta subunit, ATP1B2 supports the assembly, stability, and membrane localisation of the pump by interacting with its catalytic alpha subunit.

ATP1B2

VIPR2 (Vasoactive Intestinal Peptide Receptor 2) is a gene that encodes a receptor for vasoactive intestinal peptide (VIP), a neuropeptide involved in regulating smooth muscle relaxation, immune responses, and neurotransmission. This receptor is found on the surface of cells in various tissues and plays a crucial role in mediating VIP signalling pathways.

VIPR2

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

FHIT

WNT10A (Wnt Family Member 10A) is a gene that plays a crucial role in the Wnt signalling pathway, which is essential for regulating cell growth, development, and tissue formation. It is particularly important in the development of skin, hair, teeth, and bones. Variations or mutations in WNT10A have been linked to several developmental conditions affecting these structures.

WNT10A

DOK5 (Docking Protein 5) is a member of the DOK family of adaptor proteins, which serve as substrates for receptor tyrosine kinases and facilitate intracellular signal transmission. It plays a key role in pathways that regulate cell growth, differentiation, and survival. DOK5 is especially involved in neuronal development and has been associated with insulin signalling, making it important for both nervous system formation and metabolic regulation.

DOK5

C16ORF82 (Chromosome 16 Open Reading Frame 82), also known as FAM173B, is a gene that remains under study to determine its function. Early investigations suggest it may be involved in mitochondrial processes, playing a role in cellular energy metabolism. Due to this mitochondrial connection, it could be significant in conditions linked to mitochondrial dysfunction, although further research is required to establish its precise role.

C16ORF82

DGKB (Diacylglycerol Kinase Beta) is an enzyme that plays a crucial role in lipid signalling by converting diacylglycerol into phosphatidic acid. It is involved in significant cellular processes such as insulin sensitivity and neurotransmitter signalling. Alterations in DGKB function have been associated with metabolic disorders and are researched in connection with conditions like diabetes and obesity.

DGKB

SLCO1B1 (Solute Carrier Organic Anion Transporter Family Member 1B1): SLCO1B1 is a transporter protein that helps move drugs, including statins, into liver cells for metabolism. Genetic variations in SLCO1B1 can reduce transporter function, leading to higher drug levels in the blood and an increased risk of statin-induced muscle side effects. Testing SLCO1B1 can help guide statin selection and dosing to minimize adverse effects.

SLCO1B1

WDR70 (WD Repeat Domain 70) is a gene that encodes a protein containing WD repeat domains, which assist in facilitating protein-protein interactions. This protein plays a role in essential cellular processes such as cell cycle regulation and may also be involved in RNA processing. Although its precise functions are still under investigation, WDR70 is believed to contribute to cellular organisation and overall cell function.

WDR70

SPPL3 (Signal Peptide Peptidase-Like 3) is an enzyme belonging to the intramembrane-cleaving protease family that processes specific transmembrane proteins. By releasing intracellular domains from its substrates, SPPL3 affects cellular signalling and regulation. It has a crucial role in immune system function, including B cell maturation, and has been associated with certain autoimmune disorders. Researching SPPL3 aids in understanding how intramembrane proteolysis influences human health and disease.

SPPL3

SIPA1L3 (Signal-Induced Proliferation-Associated 1 Like 3) is a gene involved in signal transduction and cell growth. It plays a crucial role in the nervous system by supporting synaptic function and neuronal communication. Changes in SIPA1L3 may impact brain development and cognitive function, potentially contributing to neurological disorders.

SIPA1L3

FN3KRP (Fructosamine 3 Kinase-Related Protein) is a protein involved in fructosamine metabolism and may help regulate glucose levels in the body. It is related to the enzyme fructosamine 3 kinase and may influence glycation processes, which are linked to the formation of advanced glycation end-products (AGEs) that affect diabetes and ageing-related conditions.

FN3KRP

ADAM10 (A Disintegrin and Metalloproteinase 10) is a protein that functions as a transmembrane protease, involved in regulating cell adhesion, migration, and signalling. It acts by cleaving the extracellular regions of various cell surface proteins, such as growth factors and receptors, impacting critical pathways like Notch and cadherin signalling. ADAM10 plays essential roles in tissue development, cell communication, and nervous system function.

ADAM10

XKR6 (XK Related 6) is a gene that encodes a protein belonging to the XK family, which may be involved in transmembrane transport. Although its precise function is not yet fully understood, XKR6 could play a role in cellular processes important for human health.

XKR6

ADAMTSL3 (ADAMTS-Like 3) is a gene that encodes a protein belonging to the ADAMTS family, which is involved in organising the extracellular matrix and regulating cell-matrix interactions. This protein plays a role in maintaining connective tissue structure and has been linked to lung and eye development, as well as certain connective tissue disorders.

ADAMTSL3

SPATA32 (Spermatogenesis Associated 32) is a gene predominantly expressed in the testis and is believed to play a role in the process of spermatogenesis. Although its exact function in male reproductive health and fertility remains unclear, SPATA32 is regarded as significant in research relating to reproductive biology and fertility.

SPATA32

SLC16A9 (Solute Carrier Family 16 Member 9) is a gene that encodes a protein belonging to the solute carrier family, which facilitates the transport of small molecules across cell membranes. Although its precise substrates and functions are still under investigation, SLC16A9 plays a role in cellular transport processes.

SLC16A9

DEF8 (Differentially Expressed in FDCP 8 Homolog) is a gene involved in endocytic trafficking and cellular signalling. It acts as a scaffold protein, helping to coordinate interactions between signalling molecules and endosomes—crucial for proper receptor function and cell communication. Disruptions in DEF8 activity have been associated with cancer and immune-related conditions.

DEF8

ALCAM (Activated Leukocyte Cell Adhesion Molecule) is a protein that plays a vital role in cell-to-cell adhesion, allowing cells to interact, migrate, and target specific locations within the body. It is involved in essential processes such as nerve development, immune regulation, and tissue repair. Dysregulation of ALCAM has been associated with cancer metastasis, autoimmune disorders, and other pathological conditions.

ALCAM

ZMYM6 (Zinc Finger MYM-Type Containing 6) is a gene that encodes a zinc finger protein potentially involved in transcriptional regulation and chromatin remodelling. It may contribute to controlling gene expression and has been studied in connection with blood cancers. While its precise role in both normal and disease states remains under investigation, ZMYM6 is considered significant in genomic regulation processes.

ZMYM6

DPYD (Dihydropyrimidine Dehydrogenase): DPYD is an enzyme responsible for metabolising fluoropyrimidine drugs, such as 5-fluorouracil (5-FU) and capecitabine, commonly used in cancer treatment. Genetic variations in DPYD can lead to reduced enzyme activity, increasing the risk of severe toxicity, including bone marrow suppression and gastrointestinal side effects. Testing DPYD helps identify individuals who require dose adjustments or alternative treatments to improve safety and effectiveness.

DPYD

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

AHI1

FRMD4B (FERM Domain Containing 4B) is a protein that connects the cell membrane to the cytoskeleton, supporting vital cellular functions such as signal transduction, cell shape, and migration. It plays a role in regulating cell polarity, membrane organisation, and the development of neuronal networks. Dysregulation of FRMD4B may contribute to neurological disorders.

FRMD4B

ADGRL2 (Adhesion G Protein-Coupled Receptor L2) is a protein that belongs to the adhesion-GPCR family, combining cell adhesion with G protein-coupled receptor signalling. It supports nervous system development, facilitates cell-to-cell communication, and has been linked to certain neurological conditions. Its dual function makes it an important focus in neurobiological research.

ADGRL2

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-sulphur clusters — essential cofactors for numerous enzymes. Disruptions in FDX1 function can affect energy production and have been linked to mitochondrial-related diseases.

FDX1

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 significant role in establishing cell polarity and forming cell-cell junctions. It is essential for preserving tissue barrier function.

PATJ

C11ORF21 (Chromosome 11 Open Reading Frame 21) is a gene with a currently unclear or uncharacterised biological function. Although identified through genomic studies, its specific role in cellular activity and potential links to health or disease remain under investigation as part of ongoing research in human genetics.

C11ORF21

ATP2B2 (ATPase Plasma Membrane Ca²⁺ Transporting 2) is a gene that encodes a calcium pump responsible for regulating intracellular calcium levels. This pump plays a vital role in various cellular processes such as signal transduction, muscle contraction, and neurotransmitter release. Mutations in ATP2B2 have been linked to hearing loss and vestibular disorders, emphasising its importance in maintaining calcium balance within sensory hair cells essential for hearing and balance.

ATP2B2

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

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 organisation and cell movement. It is essential for proper immune cell function and the body’s defence against infections. Mutations in ARPC1B can cause a rare immunodeficiency disorder, known as ARPC1B deficiency, which impairs immune response.

ARPC1B

WNT7B (Wnt Family Member 7B) is a gene that plays a key role in the Wnt signalling 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 signalling have been linked to conditions like cancer, fibrosis, and developmental disorders.

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 readily 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

DNMT3B (DNA Methyltransferase 3 Beta) is a gene that encodes an enzyme involved in DNA methylation — a crucial epigenetic mechanism that regulates gene expression. DNMT3B plays a vital role in development and has been associated with conditions such as ICF syndrome and various types of cancer.

DNMT3B

FGGY (FGGY Carbohydrate Kinase Domain Containing) is a gene that encodes a protein involved in carbohydrate metabolism. Although its specific functions are not yet fully understood, proteins in this family generally play roles in energy production and may be associated with metabolic processes and disorders.

FGGY

HTR2C (5-Hydroxytryptamine Receptor 2C) is a serotonin receptor subtype involved in regulating mood, appetite, and behaviour. It plays a key role in central nervous system (CNS) functions and is a target for certain psychiatric medications. Variations or dysfunctions in HTR2C have been linked to mental health conditions such as depression, anxiety, and schizophrenia, as well as metabolic disorders.

HTR2C

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

GAD2

PLAUR (Plasminogen Activator, Urokinase Receptor) is a gene that encodes a receptor involved in proteolysis and cell migration. It facilitates tissue remodelling and wound healing by promoting the conversion of plasminogen to plasmin, an enzyme that degrades fibrin and components of the extracellular matrix. Increased PLAUR levels have been linked to tumour growth and metastasis, underscoring its role in cancer progression and its potential as a therapeutic target.

PLAUR

SLC24A4 (Solute Carrier Family 24 Member 4) is a gene involved in the transport of calcium and sodium ions, playing a key role in dental enamel formation and pigmentation processes. Variants in SLC24A4 are linked to amelogenesis imperfecta, a condition that affects tooth enamel, and may also contribute to pigmentation-related disorders.

SLC24A4

ZNF816 (Zinc Finger Protein 816) is a gene that encodes a member of the zinc finger protein family, known for its roles in DNA binding and gene regulation. Although the specific function of ZNF816 has not been fully established, zinc finger proteins are key regulators of gene expression, influencing development, cell differentiation, and potential disease pathways such as cancer and genetic disorders.

ZNF816

EIF4G3 (Eukaryotic Translation Initiation Factor 4 Gamma 3) is a gene that encodes a key component of the eIF4F complex, which is involved in the initiation of protein synthesis. It plays a crucial role in recruiting ribosomes to mRNA, enabling efficient translation and protein production. Proper functioning of EIF4G3 is essential for cell growth and differentiation, while its dysregulation may contribute to diseases such as cancer, where protein synthesis is often disrupted.

EIF4G3

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

ARSB

CUBN (Cubilin) is a multifunctional receptor protein involved in the absorption and transport of key nutrients, including vitamin B12 and various proteins such as albumin. It plays a vital role in the kidneys and intestines, where it helps reabsorb filtered proteins and supports nutrient uptake. In the kidney, CUBN works alongside megalin to maintain protein balance, while in the gut, it is essential for the efficient transport of vitamin B12, supporting normal metabolism and cellular function.

CUBN

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 recognises formyl peptides, which serve as signals indicating the presence of microbial invaders, aiding the body in mounting an effective immune response.

FPR1

ATG12 (Autophagy Related 12) is a gene essential for the autophagy process — a cellular system that breaks down and recycles damaged components. ATG12 forms a complex with ATG5, a critical step in autophagosome formation. This function supports cell survival under stress and helps maintain cellular health. Disruptions in ATG12 activity have been associated with conditions such as cancer and neurodegenerative diseases.

ATG12

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

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

SLC6A16 (Solute Carrier Family 6 Member 16) is a gene that encodes a transporter protein involved in the movement of amino acids and neurotransmitters within the nervous system. It plays a key role in maintaining neurotransmitter balance, and disruptions in its function may be linked to neurological conditions.

SLC6A16

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 transporting molecules across cell membranes. While its precise function and substrates remain under investigation, SLC35F3 is thought to play a role in cellular transport and metabolic processes.

SLC35F3

FZD4 (Frizzled Class Receptor 4) is a gene that encodes a receptor involved in the Wnt signalling pathway. This pathway is essential for embryonic development, tissue maintenance, and stem cell regulation. FZD4 helps control cell growth and differentiation, playing a key role in tissue regeneration and cell fate decisions.

FZD4

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 found in many tissues, especially in the nervous system. A deficiency in ARSA, often caused by genetic mutations, leads to the accumulation of sulfatides and can result in Metachromatic Leukodystrophy (MLD), a rare disorder characterised by the progressive loss of nerve insulation (demyelination) and severe neurological decline.

ARSA

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.

ADAMTS10 (A Disintegrin and Metalloproteinase with Thrombospondin Motifs 10) is a gene that encodes a protein involved in the remodelling of the extracellular matrix, particularly in connective tissues. It plays a crucial role in tissue development and repair, especially in cartilage and bone. Variants in ADAMTS10 have been associated with connective tissue disorders and skeletal abnormalities.

ADAMTS10

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 remodelling and immune response. Disruption of DCSTAMP can affect bone density and the regulation of the immune system.

DCSTAMP

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

C12ORF43

XXYLT1 (Xyloside Xylosyltransferase 1) is a gene that encodes an enzyme responsible for modifying proteins by adding xylose sugars to proteoglycans. This modification is essential for constructing glycosaminoglycan chains, which support cell signalling, adhesion, and movement within the extracellular matrix. Alterations in XXYLT1 can impact these processes and have been associated with developmental disorders.

XXYLT1

ADARB1 (Adenosine Deaminase RNA-Specific B1) is a gene that encodes an enzyme involved in RNA editing — a process that modifies RNA molecules after transcription. This editing can influence RNA stability, function, and gene expression. ADARB1 has a significant role in brain function and has been associated with the regulation of neural activity and neurological disorders.

ADARB1

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

ADCY6

FOXP2 (Forkhead Box P2) is a gene that encodes a transcription factor essential for speech and language development. It plays a key role in neural circuits related to communication. Mutations in FOXP2 have been linked to speech and language impairments, making it a critical gene in the study of human language and its evolution.

FOXP2

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 serious reaction to certain anaesthetics. Identifying RYR1 mutations can help assess risk and guide safer anaesthesia choices during surgery.

RYR1

AGPAT2 (1-acylglycerol-3-phosphate O-acyltransferase 2) is a vital enzyme involved in lipid metabolism, specifically in the synthesis of phospholipids and triglycerides. It catalyses the conversion of lysophosphatidic acid (LPA) to phosphatidic acid (PA), a crucial step in the Kennedy pathway for triacylglycerol production. AGPAT2 plays significant roles in adipocyte differentiation, lipid storage, and membrane formation. Dysregulation of AGPAT2 activity has been linked to metabolic conditions such as obesity, insulin resistance, and dyslipidaemia, while mutations in the AGPAT2 gene are associated with congenital generalised lipodystrophy type 1 (CGL1), a rare genetic disorder affecting fat distribution.

AGPAT2

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

Latex allergy is an immune reaction triggered by natural rubber latex, a material derived from the sap of rubber trees. Commonly found in medical supplies and everyday items, latex can cause reactions ranging from mild skin irritation to severe anaphylaxis in sensitive individuals.

Latex

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 the immune response, allowing immune cells to migrate from the bloodstream into tissues during injury or infection. JAML mediates cell-to-cell interactions critical for inflammation and immune surveillance, making it an important focus for understanding and treating inflammatory diseases and immune disorders.

JAML

ABHD2 (Abhydrolase Domain Containing 2) is a gene that encodes an enzyme belonging to the serine hydrolase family, involved in lipid metabolism and signalling. This enzyme acts on lipid molecules and plays important roles in processes such as sperm capacitation, muscle contraction, and heat production. ABHD2’s function in lipid regulation makes it a key player in metabolism and a potential target for treating conditions related to fertility, obesity, and metabolic health.

ABHD2

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

ADCY5

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 to regulate the breakdown of triglyceride-rich lipoproteins. By inhibiting enzymes such as 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 hyperlipidaemia and atherosclerosis.

APOC1

STAT6 (Signal Transducer And Activator Of Transcription 6) is a protein that plays a central role in immune signalling pathways, particularly those activated by cytokines such as IL-4 and IL-13. It regulates allergic inflammation by promoting the development of Th2 cells, the production of IgE antibodies, and the proliferation of mast cells. Due to its involvement in allergic reactions and asthma, STAT6 is a significant target for therapies designed to control immune responses in allergic conditions.

STAT6

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

SLC39A8

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 oestrogen, 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 oestrogen, where it influences cellular processes.

ESR1

CHD6 (Chromodomain Helicase DNA Binding Protein 6) is a gene that encodes a protein involved in chromatin remodelling, 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

DDX58 (DExD/H-Box Helicase 58), also known as RIG-I, is a protein that functions as a receptor in the innate immune system. It detects viral RNA and helps initiate the body’s early antiviral response by promoting the production of interferons and inflammatory signals. DDX58 is crucial for recognising and combating many types of RNA viruses.

DDX58

ADM (Adrenomedullin) is a peptide hormone involved in regulating the cardiovascular system and circulation. It helps control blood pressure through its vasodilatory effects and supports fluid balance. ADM also plays a role in modulating immune responses and may have protective functions in cardiovascular health.

ERBIN (Erb-B2 Receptor Tyrosine Kinase 2 Interacting Protein) is a protein that interacts with the ErbB2 receptor, which is crucial for cell growth and differentiation. ERBIN helps regulate signalling pathways associated with ErbB2 and other cellular processes, and it has been studied for its potential role in cancers involving ErbB2 activity, such as breast cancer.

ERBIN

BEND5 (BEN Domain Containing 5) is a gene that encodes a protein thought to be involved in chromatin organisation and gene regulation. Its BEN domain indicates a role in DNA binding and controlling gene expression. Although its precise functions are still under investigation, BEND5 may affect key cellular processes and disease mechanisms.

BEND5

ANKRD30A (Ankyrin Repeat Domain 30A) is a gene that encodes a protein containing ankyrin repeat domains, which facilitate protein–protein interactions. This protein is primarily expressed in breast tissue and has been associated with breast cancer, where it may serve as a potential biomarker or therapeutic target in research and treatment.

ANKRD30A

AGBL1 (ATP/GTP-binding protein-like 1) is a protein that belongs to the ATP/GTP-binding protein-like family, involved in cellular processes related to nucleotide binding and hydrolysis. It plays key roles in cytoskeletal organisation, vesicular trafficking, and signal transduction by regulating nucleotide metabolism dynamics. AGBL1 is essential for maintaining cellular homeostasis and coordinating responses to external signals. Dysregulation of AGBL1 has been linked to various diseases, including neurodegenerative disorders, cancer, and immune system dysfunction, highlighting its importance in cell function and disease.

AGBL1

DDI1 (DNA-Damage Inducible 1 Homolog 1) is a protein involved in crucial cellular processes such as DNA repair, cell cycle regulation, and the ubiquitin-proteasome system. It plays a vital role in responding to DNA damage by functioning as a ubiquitin-dependent protease, aiding in the degradation of specific proteins to preserve cellular health. Due to its multifunctional roles, DDI1 is essential for protecting cells from stress and may be associated with cancer and other diseases related to DNA damage and repair.

DDI1

DOCK3 (Dedicator Of Cytokinesis 3) is a protein that plays a key role in remodelling the actin cytoskeleton and regulating cell movement. It is especially important in the nervous system, where it supports neural development and synaptic function. Dysregulation of DOCK3 has been associated with neurodegenerative diseases.

DOCK3

FAM9A (Family with Sequence Similarity 9 Member A) is a protein-coding gene belonging to a family of genes with sequence similarity. Although its specific functions are still being studied and are not yet fully understood, FAM9A is expressed in several tissues, including the brain, testis, and ovaries. This indicates it may have roles in important cellular processes within these organs. Genes in the FAM family often participate in cell signalling, transcription regulation, or protein interactions, although the precise functions of FAM9A remain under investigation.

FAM9A

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

EXTL2

LPP (LIM Domain Containing Preferred Translocation Partner In Lipoma) is a protein involved in regulating cell adhesion, migration, and the organisation of the actin cytoskeleton. It plays a key role in forming focal adhesions and stress fibres, 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 tumours, underscoring its significance in cell biology and cancer research.

ADH1A (Alcohol Dehydrogenase 1A) is a gene that encodes an enzyme involved in the breakdown of alcohol in the liver. It catalyses the conversion of ethanol to acetaldehyde, a key step in alcohol metabolism. Variations in ADH1A can influence how the body processes alcohol and may affect individual susceptibility to alcohol-related conditions.

ADH1A

FABP2 (Fatty Acid Binding Protein 2) is a protein involved in the intracellular transport of long-chain fatty acids and their acyl-CoA derivatives. It plays a key role in the absorption and metabolism of fatty acids within the intestine. Variations in FABP2 can affect lipid metabolism and are associated with metabolic conditions such as diabetes and obesity.

FABP2

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

DOCK10 (Dedicator of Cytokinesis 10) is a gene involved in actin cytoskeleton remodelling, 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.

GNMT

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