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Who is the DNA Metabolic Health Test Suitable For?
The GetTested DNA Metabolic Health Test is ideal for anyone interested in improving their metabolic health and understanding how their genetics affect various aspects of their metabolism. It is especially valuable for individuals aiming to prevent metabolic diseases, improve blood sugar levels, optimize weight, and understand their body fat and obesity. The Metabolic Health Test also examines genes involved in thyroid function. By gaining insights into your genetic predisposition, you can make informed decisions about your health.
How Does It Work?

Order the Test: Order your GetTested DNA Metabolic Health Test online and have it delivered to your home.
Collect the Sample: Use the provided test kit to easily collect a saliva sample at home.
Return the Sample: Place the sample in the prepaid return envelope and send it back to the GetTested laboratory.
The Results: Within 6-8 weeks of receiving your sample, we analyze your genes and generate a comprehensive response report.

Test Report and Recommendations
Once your results are ready, you will receive a comprehensive response report from GetTested explaining your genetic insights and what they mean for your metabolic health. In addition, the report includes personalized recommendations and strategies to optimize your health based on your genetic results.
About the Sample Material
The DNA and original sample material are destroyed after analysis, and there is no personal connection to the sample except for your unique test ID to which your test results are linked. The information is completely anonymized, and the lab has no knowledge of whom it belongs to. We do not give or sell the results to any third party. You also have the option to remove your test results after receiving them.

Who is the DNA Metabolic Health Test Suitable For? 
The GetTested DNA Metabolic Health Test is ideal for anyone interested in improving their metabolic health and understanding how their genetics affect various aspects of their metabolism. It is especially valuable for individuals aiming to prevent metabolic diseases, improve blood sugar levels, optimize weight, and understand their body fat and obesity. The Metabolic Health Test also examines genes involved in thyroid function. By gaining insights into your genetic predisposition, you can make informed decisions about your health. 
How Does It Work?
Order the Test: Order your GetTested DNA Metabolic Health Test online and have it delivered to your home. 
Collect the Sample: Use the provided test kit to easily collect a saliva sample at home. 
Return the Sample: Place the sample in the prepaid return envelope and send it back to the GetTested laboratory. 
The Results: Within 6-8 weeks of receiving your sample, we analyze your genes and generate a comprehensive response report.
Test Report and Recommendations 
Once your results are ready, you will receive a comprehensive response report from GetTested explaining your genetic insights and what they mean for your metabolic health. In addition, the report includes personalized recommendations and strategies to optimize your health based on your genetic results. 
About the Sample Material 
The DNA and original sample material are destroyed after analysis, and there is no personal connection to the sample except for your unique test ID to which your test results are linked. The information is completely anonymized, and the lab has no knowledge of whom it belongs to. We do not give or sell the results to any third party. You also have the option to remove your test results after receiving them.

DNA Metabolic Health Test

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

AHSG

ATP8B1 (ATPase Phospholipid Transporting 8B1) is a gene that encodes a phospholipid transporter located in the liver cell membrane. It helps maintain the lipid balance of cell membranes and bile. Mutations in ATP8B1 can cause progressive familial intrahepatic cholestasis (PFIC), a group of inherited liver disorders.

ATP8B1

ATP1B3 (ATPase Na+/K+ Transporting Subunit Beta 3): ATP1B3 is a component of the Na⁺/K⁺ ATPase pump, which maintains cellular ion gradients essential for regulating cell volume and electrical activity. This subunit affects the pump’s activity and specificity, supporting muscle function, nerve signalling, and kidney filtration. Changes in ATP1B3 may be associated with cardiovascular and neurological conditions.

ATP1B3

HORMAD1 (HORMA Domain-Containing Protein 1): HORMAD1 is a gene that encodes a protein containing a HORMA domain, which is involved in chromosome dynamics during meiosis. It plays a key role in regulating homologous chromosome pairing and segregation, contributing to genetic diversity and proper gamete formation.

HORMAD1

HPRT1 (Hypoxanthine Phosphoribosyltransferase 1): HPRT1 is an essential gene involved in purine metabolism. It catalyses the conversion of hypoxanthine to inosine monophosphate (IMP), a key precursor for purine nucleotide synthesis. Mutations in HPRT1 can result in Lesch-Nyhan syndrome, a rare genetic disorder associated with neurological and behavioural abnormalities.

HPRT1

SERTAD2 (SERTA Domain Containing 2): SERTAD2 is a multifunctional protein containing a SERTA domain, which is associated with cell cycle regulation. Beyond its role in cell cycle progression, SERTAD2 is involved in crucial cellular processes such as DNA replication, DNA repair, and chromatin remodelling. Its interactions with various transcription factors and co-regulators establish it as an important regulator of gene expression.

SERTAD2

PKP4 (Plakophilin 4): PKP4 is a protein that supports cell–cell adhesion, particularly within desmosomes — specialised structures that link neighbouring cells. It helps maintain tissue integrity, especially in areas exposed to mechanical stress. Mutations in PKP4 can disrupt this function, contributing to certain skin and cardiac disorders.

PKP4

THADA (Thyroid Adenoma Associated): THADA is a gene linked to thyroid adenomas, a type of thyroid tumour. It may play a role in thyroid tumourigenesis and has been implicated in the development of thyroid cancer, making it a subject of ongoing research in thyroid diseases.

THADA

SCAMP1 (Secretory Carrier Membrane Protein 1): SCAMP1 is a protein involved in membrane trafficking processes, particularly in the recycling of membrane proteins and in exocytosis. It plays a key role in cellular communication and the transport of substances within cells, which is essential for various cellular functions.

SCAMP1

COL11A1 (Collagen Type XI Alpha 1 Chain): COL11A1 is a gene that encodes a key component of type XI collagen, which is crucial for the structure and integrity of connective tissue. Mutations in COL11A1 are associated with several connective tissue disorders, including certain forms of Ehlers-Danlos syndrome and Stickler syndrome.

COL11A1

SLC22A5 (Solute Carrier Family 22 Member 5): SLC22A5 is a protein, also known as OCTN2, that acts as a key carnitine transporter in the body. It enables the cellular uptake of carnitine, a compound essential for transporting fatty acids into mitochondria for energy production. This process is crucial for energy metabolism in tissues such as the heart and muscles. Mutations in the SLC22A5 gene can lead to primary carnitine deficiency, a condition characterised by muscle weakness and cardiomyopathy, emphasising its vital role in metabolic health and energy balance.

SLC22A5

ATXN1 (Ataxin 1): ATXN1 is a gene that encodes the ataxin-1 protein, which plays a role in neuronal function. Mutations in ATXN1, particularly those involving expanded CAG repeats, lead to spinocerebellar ataxia type 1 (SCA1) — a neurodegenerative disorder characterised by progressive loss of motor coordination and balance. Studying ATXN1 is important for understanding SCA1 and developing potential treatments for related neurological diseases.

ATXN1

GPR139 is a G protein-coupled receptor (GPCR) predominantly expressed in the central nervous system, particularly in areas involved in the regulation of neurotransmitter systems and neuronal activity. It is believed to modulate neurotransmission, especially dopamine and glutamate signalling, and may function as an inhibitory receptor by decreasing cAMP levels and reducing neuronal excitability.

GPR139

AMBRA1 (Autophagy and Beclin 1 Regulator 1): AMBRA1 is a key protein that regulates autophagy, the process by which cells break down and recycle their components. It supports cell survival during stress by collaborating with BECN1 (Beclin 1) to initiate the formation of autophagosomes. Proper functioning of AMBRA1 is essential for cellular homeostasis, and its dysregulation has been linked to developmental disorders and neurodegenerative diseases.

AMBRA1

ALX4 (ALX Homeobox 4): ALX4 is a transcription factor that plays a crucial role in skull and limb development. Mutations in this gene are associated with craniofacial malformations and skeletal abnormalities, highlighting its significance in bone formation and morphogenesis.

ALX4

APEH (Acylaminoacyl-Peptide Hydrolase): APEH is an enzyme that plays a crucial role in protein turnover by breaking down acetylated peptides. It is involved in the processing of damaged or misfolded proteins, helping to preserve protein homeostasis. Malfunctions in APEH can affect neurodegenerative processes and the body's response to oxidative stress.

APEH

SCARB1 (Scavenger Receptor Class B Member 1): SCARB1 is a protein that plays a crucial role in the selective uptake of cholesterol esters from high-density lipoprotein (HDL) particles. It is essential for lipid metabolism and reverse cholesterol transport. Variants in SCARB1 can affect cholesterol levels and have been associated with cardiovascular disease risk.

SCARB1

ALDH1A2 (Aldehyde Dehydrogenase 1 Family Member A2): ALDH1A2 is an enzyme belonging to the aldehyde dehydrogenase family that catalyses the oxidation of retinaldehyde to retinoic acid, the active form of vitamin A. This conversion is essential for developmental processes such as embryogenesis, tissue patterning and organ formation, as it regulates gene expression and cell differentiation through retinoic acid signalling. ALDH1A2 is highly expressed in developing tissues, including limb buds, the central nervous system and sensory organs.

ALDH1A2

KCTD1 (Potassium Channel Tetramerization Domain Containing 1): KCTD1 is a protein that interacts with potassium channels, influencing their activity. It plays important roles in cellular functions such as signal transduction and ion transport. Mutations in KCTD1 have been associated with developmental disorders, particularly those affecting the skin and hair.

KCTD1

AHCY: Encodes the enzyme adenosylhomocysteinase, which plays a key role in converting S-adenosylhomocysteine to homocysteine, a vital step in the body's methylation processes and detoxification.

AHCY

NCOR1 (Nuclear Receptor Corepressor 1) is a protein that plays a key role in regulating gene expression and transcriptional repression. Located mainly in the cell nucleus, NCOR1 modulates the activity of nuclear receptors and other transcription factors. It functions as a corepressor for receptors such as thyroid hormone receptors (TRs), retinoic acid receptors (RARs), and peroxisome proliferator-activated receptors (PPARs). By recruiting histone deacetylases (HDACs) and other chromatin-modifying enzymes, NCOR1 helps form repressive chromatin structures, leading to reduced gene transcription.

NCOR1 

TWIST1 (Twist Family BHLH Transcription Factor 1): TWIST1 is a gene that encodes a protein essential for embryonic development, particularly in directing mesenchymal cell lineage determination. It plays a role in craniofacial formation and is linked to Saethre-Chotzen syndrome — a congenital disorder characterised by craniosynostosis.

TWIST1

RBPJ (Recombination Signal Binding Protein For Immunoglobulin Kappa J Region): RBPJ is a key transcription factor in the Notch signalling pathway, which plays a critical role in regulating cell fate, differentiation, and development. Proper function of RBPJ is essential for tissue development and cell specialisation, while dysregulation of RBPJ and Notch signalling is associated with various diseases, including cancers and developmental disorders.

RBPJ

LRFN5 (Leucine Rich Repeat and Fibronectin Type III Domain Containing 5): LRFN5 is a member of the LRFN family of proteins. It is involved in neuronal development and synaptic function, playing a role in the formation and maintenance of neural circuits. Dysfunctions in LRFN5 may contribute to neurodevelopmental disorders.

LRFN5

TRIB1 (Tribbles Pseudokinase 1): TRIB1 is a gene that encodes a pseudokinase protein belonging to the Tribbles family. TRIB1 plays key roles in regulating multiple cellular signalling pathways, including those involved in growth, metabolism, and inflammation. It has been linked to lipid metabolism, cardiovascular health, and cancer, with its complex functions continuing to be an active area of research.

TRIB1

MITF (Melanocyte Inducing Transcription Factor): MITF is a key regulator that highlights its role in the development and function of melanocytes, the cells responsible for pigment production. It is essential for normal pigmentation, and mutations in MITF can result in pigmentary disorders and increase the risk of melanoma, a form of skin cancer. MITF also plays a role in the development of certain retinal cells and is associated with Waardenburg syndrome.

MITF

MME, also known as Membrane Metallo-Endopeptidase or neprilysin, is a zinc-dependent metalloprotease enzyme that plays a key role in regulating peptide signalling molecules. It is primarily found on the cell membrane of various cell types, including neurons, endothelial cells, and immune cells. MME is particularly important for breaking down peptides involved in blood pressure regulation, such as bradykinin and atrial natriuretic peptide (ANP), converting them into inactive fragments and helping to maintain cardiovascular homeostasis.

TMEM171 (Transmembrane Protein 171): TMEM171 is a gene that encodes a transmembrane protein. While its specific functions are not yet fully understood, transmembrane proteins typically play important roles in cell signalling, transport of molecules across membranes, and cellular communication. Further research is required to clarify the precise roles of TMEM171 in cellular processes.

TMEM171

NMRK1 (Nicotinamide Riboside Kinase 1): NMRK1 is an enzyme that plays a crucial role in the NAD+ biosynthesis pathway by catalysing the conversion of nicotinamide riboside to nicotinamide mononucleotide. NAD+ is essential for energy metabolism, DNA repair, and cellular signalling. Through its role in NAD+ production, NMRK1 is important for maintaining cellular energy balance and genomic stability, with implications for ageing, metabolic disorders, and conditions linked to NAD+ depletion.

NMRK1

JAK2 (Janus Kinase 2): JAK2 is a gene that encodes a kinase enzyme belonging to the Janus kinase (JAK) family. JAK2 plays a key role in cytokine signalling pathways and is essential for the activation of immune and blood-forming (haematopoietic) cells. Mutations in JAK2 are linked to blood disorders, including polycythaemia vera and other myeloproliferative neoplasms.

JAK2

TRPM6 (Transient Receptor Potential Cation Channel Subfamily M Member 6): TRPM6 is a channel that plays a crucial role in magnesium (Mg) absorption and homeostasis. It is essential for maintaining proper magnesium balance in the body, and mutations in TRPM6 can lead to hypomagnesaemia with secondary hypocalcaemia, a condition characterised by low magnesium and calcium (Ca) levels in the blood.

TRPM6

BCL2 (B-Cell Lymphoma 2): BCL2 is a gene that encodes a protein involved in regulating apoptosis, the process of programmed cell death. BCL2 proteins play a key role in maintaining the balance between cell survival and cell death. Dysregulation of BCL2 is associated with cancer and other diseases.

BCL2

NR4A2 (Nuclear Receptor Subfamily 4 Group A Member 2): NR4A2 is a transcription factor, also known as Nurr1, that plays a crucial role in the development and maintenance of dopaminergic neurons in the brain. It is involved in neuroprotection and has been studied for its relevance to Parkinson’s disease and other neurodegenerative disorders.

NR4A2

TRMO (tRNA Methyltransferase 10 Homolog A): TRMO (tRNA Methyltransferase 10 Homolog A) is a gene involved in tRNA modification. It encodes an enzyme that methylates specific nucleotides in tRNA molecules. These tRNA modifications are crucial for ensuring accurate protein synthesis during translation.

TRMO

BHMT (Betaine-Homocysteine S-Methyltransferase): BHMT is an enzyme that indicates the body’s ability to metabolise homocysteine, a process important for cardiovascular and neurological health. BHMT catalyses the conversion of homocysteine to methionine using betaine as a methyl donor. Dysregulation of BHMT can lead to elevated homocysteine levels, which are associated with cardiovascular disease and other health concerns.

BHMT

ARAP2 (ArfGAP With RhoGAP Domain, Ankyrin Repeat, and PH Domain 2): ARAP2 is a protein that plays a crucial role in cell signalling by functioning as a GTPase-activating protein for members of the Arf and Rho families. It is significant for regulating cell migration and the organisation of the cytoskeleton, with potential implications in cancer metastasis and cellular morphology.

ARAP2

ALDH7A1 (Aldehyde Dehydrogenase 7 Family Member A1): ALDH7A1 is an enzyme involved in the metabolism of aldehydes and is essential for the detoxification of pyridoxal 5'-phosphate, a form of vitamin B6. Proper function of ALDH7A1 is critical for normal lysine metabolism, and deficiency in this enzyme can lead to pyridoxine-dependent epilepsy, a condition in which seizures respond to vitamin B6 treatment.

ALDH7A1

ACKR2 (Atypical Chemokine Receptor 2): ACKR2, also known as D6, is a receptor that operates in an unconventional manner by scavenging chemokines from the environment instead of signalling through typical pathways. This function is crucial for regulating inflammatory responses and maintaining immune balance. By clearing chemokines, ACKR2 plays a vital role in controlling inflammation and has been associated with various inflammatory conditions, including asthma, psoriasis, and cancer.

ACKR2

TRIM63 (Tripartite Motif Containing 63): TRIM63 is a protein that plays a key role in muscle protein degradation, particularly during muscle atrophy. Also known as MuRF1, it targets specific muscle proteins for ubiquitination and degradation in the proteasome. TRIM63 is important in conditions of muscle wasting, including cachexia, sarcopenia, and heart failure, and understanding its function may help in developing therapies for muscle-wasting diseases.

TRIM63

TRMT6, also known as tRNA methyltransferase 6 homolog, is an enzyme that reflects the role of post-transcriptional modification in transfer RNA (tRNA). TRMT6 belongs to the class I-like SAM (S-adenosylmethionine)-dependent methyltransferase superfamily and catalyses the methylation of specific nucleotides within tRNA molecules. This modification, particularly at the wobble position of adenosine residues, is crucial for accurate and efficient translation of mRNA into protein, helping stabilise codon-anticodon interactions and ensuring fidelity during protein synthesis.

TRMT6

TRIM37 (Tripartite Motif Containing 37): TRIM37 is a gene that encodes a protein with E3 ubiquitin ligase activity, playing a key role in protein degradation. It has been associated with Mulibrey nanism, a rare growth disorder. Studying TRIM37 is important for understanding growth and developmental disorders as well as the function of the ubiquitin-proteasome system.

TRIM37

TRIM33 (Tripartite Motif Containing 33): TRIM33 is a protein that acts as an E3 ubiquitin ligase, involved in transcriptional regulation and DNA repair. It plays key roles in chromatin remodelling, stem cell differentiation, and the suppression of tumour development.

TRIM33

NLGN1 (Neuroligin 1): NLGN1 is a measure that reflects the presence and function of a key protein in the nervous system — Neuroligin 1, encoded by the NLGN1 gene. It plays a vital role in the formation and modulation of synapses, supporting synaptic specialisation, strength, and plasticity. NLGN1 is critical for learning, memory, and overall brain function, and has been a focus in research on autism spectrum disorders and other neurodevelopmental conditions.

NLGN1

NKX2-3 (NK2 Homeobox 3): NKX2-3 is a gene that encodes a transcription factor essential for gastrointestinal development and homeostasis. It helps regulate genes involved in intestinal epithelial cell differentiation and mucosal immunity. Dysregulation of NKX2-3 has been associated with inflammatory bowel diseases.

NKX2-3

SERPINA1 (Serpin Family A Member 1): SERPINA1 is a measure that reflects the activity of a key protease inhibitor in the body, also known as alpha-1-antitrypsin. Primarily produced in the liver, it plays a vital role in protecting the lungs from neutrophil elastase. Deficiency in SERPINA1 can lead to alpha-1-antitrypsin deficiency, a genetic condition associated with lung diseases such as emphysema and COPD, as well as liver disorders. It is essential for maintaining the balance of proteolytic activity in lung tissues.

SERPINA1

TRIB3 (Tribbles Pseudokinase 3): TRIB3 is a protein involved in various cellular processes, including the stress response, cell proliferation, and metabolism. It acts as a modulator of signalling pathways and has been associated with the development of conditions such as insulin resistance, cancer, and cardiovascular diseases.

TRIB3

SERPINB10 (Serpin Family B Member 10): SERPINB10 (Serpin Family B Member 10) is a member of the serpin family of protease inhibitors. It plays a role in regulating protease activity in various biological processes. While its precise functions and implications in human disease are not yet fully understood, it is considered important in maintaining normal cellular regulation.

SERPINB10

TRIB3 (Tribbles Pseudokinase 3): TRIB3 is a pseudokinase that plays a crucial role in regulating multiple cellular signalling pathways involved in cell survival, metabolism, and stress responses. It helps modulate cellular stress by influencing pathways related to the unfolded protein response and insulin signalling. Elevated levels of TRIB3 have been associated with conditions such as insulin resistance, cardiovascular disease, and cancer by affecting cell proliferation and apoptosis.

NKAIN3 (Na+/K+ Transporting ATPase Interacting 3): NKAIN3 is involved in regulating the Na+/K+ ATPase, which is essential for maintaining ion gradients across cell membranes. Its role is critical for neuronal activity, particularly in controlling neuronal excitability and signal transmission. Dysfunction in NKAIN3 may affect neural communication and have implications for neurological disorders.

NKAIN3

TRIB2 (Tribbles Pseudokinase 2): TRIB2 is a member of the tribbles family, involved in regulating key cellular processes such as cell proliferation and survival. It functions as a modulator of signalling pathways and has been associated with cancer development, particularly in leukaemias.

TRIB2

FBOX21 (F-Box Protein 21): FBOX21 is a member of the F-box protein family, which are crucial components of the ubiquitin-proteasome system responsible for protein degradation. This system is vital for regulating protein levels within the cell, affecting processes such as cell cycle progression, signal transduction, and apoptosis. FBOX21 specifically aids in targeting proteins for degradation, thereby supporting cellular homeostasis. Dysregulation of FBOX21 can contribute to diseases, including cancers, where abnormal protein accumulation or degradation drives disease progression.

FBOX21

TRHDE (Thyrotropin-Releasing Hormone Degrading Enzyme): TRHDE is a measure that reflects the activity of an enzyme responsible for breaking down thyrotropin-releasing hormone (TRH). TRH plays a key role in regulating the thyroid axis, and TRHDE is important for maintaining hormonal balance, with implications for metabolism and mood regulation.

TRHDE

BMPR1B (Bone Morphogenetic Protein Receptor Type 1B): BMPR1B is a receptor that binds bone morphogenetic proteins, playing a crucial role in bone formation and development. It is important for cell growth and differentiation and has been studied for its involvement in skeletal disorders and certain cancers.

BMPR1B

NNT (Nicotinamide Nucleotide Transhydrogenase): Nicotinamide Nucleotide Transhydrogenase (NNT) is an enzyme situated in the inner mitochondrial membrane that plays a vital role in regenerating NADPH from NADH. This process is crucial for maintaining the cellular redox balance and shielding cells from oxidative stress. Deficiencies in NNT can impair mitochondrial function and heighten susceptibility to oxidative damage, contributing to metabolic disorders and chronic diseases.

SELENOM (Selenoprotein M): SELENOM is a member of the selenoprotein family, proteins that incorporate selenium. It is primarily found in the brain and is believed to have antioxidant properties. While its exact role in neurological function is not fully understood, SELENOM may help protect neurons from oxidative stress, with potential implications for neurodegenerative diseases.

SELENOM

TRAPPC9 (Trafficking Protein Particle Complex Subunit 9): TRAPPC9 is a gene that encodes a subunit of the trafficking protein particle (TRAPP) complex. This complex plays a key role in vesicle trafficking within cells, supporting the transport of proteins and lipids between cellular compartments. TRAPPC9 is essential for maintaining proper cellular function and organisation.

TRAPPC9

The MTHFS gene encodes methenyltetrahydrofolate synthetase, an enzyme involved in folate metabolism. It plays a vital role in maintaining the pool of active folate derivatives used for methylation, DNA synthesis, and neurotransmitter production. MTHFS regulates the conversion of various folate forms and helps maintain the balance of one-carbon units essential for cellular function. Variants in this gene may disrupt folate recycling, potentially affecting methylation pathways and contributing to issues such as impaired detoxification, fatigue, or mood imbalance.

MTHFS

The TYMS gene encodes thymidylate synthase, a key enzyme involved in the synthesis of thymidine, one of the four nucleotides necessary for DNA replication and repair. This enzyme depends on active folate (5,10-methylene-THF) to work effectively, closely linking TYMS to folate metabolism. Variations in the TYMS gene can influence folate availability at the cellular level and may modify the body's response to folate or folate-based treatments. Such alterations may contribute to disrupted DNA synthesis, increased vulnerability to certain diseases, or differing responses to chemotherapy or supplementation.

TYMS

The MTHFD1L gene encodes a mitochondrial enzyme involved in the folate cycle and one-carbon metabolism, specifically in the conversion of formate to 10-formyl-THF. This process supports purine synthesis and methylation reactions, which are essential for DNA and RNA production and cellular repair. Genetic variations in MTHFD1L can affect mitochondrial folate metabolism and have been associated with an increased risk of neural tube defects, cardiovascular problems, and impaired methylation. It plays a complementary role to the cytosolic MTHFD1 gene but functions within the mitochondria.

MTHFD1L

The PDXK gene encodes the enzyme pyridoxal kinase, which is crucial for converting vitamin B6 into its active form, pyridoxal-5′-phosphate (PLP). PLP acts as a coenzyme in over 100 enzymatic reactions, many of which are involved in amino acid metabolism, neurotransmitter synthesis, and energy production. Variants in the PDXK gene may impair this conversion, potentially leading to a functional vitamin B6 deficiency even if B6 intake is adequate. Disruption in PLP levels has been associated with neurological symptoms, fatigue, and mood disturbances.

PDXK

TUFM (Tu Translation Elongation Factor, Mitochondrial): TUFM is a protein that plays a crucial role in mitochondrial protein synthesis, facilitating the translation process within mitochondria. It is vital for proper mitochondrial function and energy production, with potential implications in mitochondrial disorders and conditions linked to impaired energy metabolism.

TUFM

The SLC19A1 gene encodes the reduced folate carrier 1 (RFC1), a key transporter responsible for moving folate and folate derivatives into cells. This transport system is essential for cellular uptake of folate, which is necessary for DNA synthesis, repair, methylation processes, and red blood cell production. Variants in this gene may impair folate transport, potentially resulting in reduced intracellular folate levels even when dietary intake is adequate. Such dysfunctions have been associated with developmental problems, fatigue, cognitive issues, and increased homocysteine levels.

SLC19A1

TCN1 encodes the protein haptocorrin, also known as transcobalamin I, which binds vitamin B12 (cobalamin) in the saliva and protects it from degradation in the acidic environment of the stomach. This initial binding allows B12 to reach the small intestine, where it is then transferred to intrinsic factor for absorption. Variants in the TCN1 gene may affect the stability or availability of B12 in the digestive tract, potentially contributing to suboptimal B12 status. Although not directly involved in cellular B12 transport like TCN2, TCN1 plays a critical early role in vitamin B12 handling.

TCN1

TUB (Tubby Bipartite Transcription Factor): TUB is a gene that encodes the Tubby bipartite transcription factor, which plays a key role in regulating appetite and body weight. Mutations in TUB have been linked to obesity and retinal degeneration. This gene is particularly important for understanding metabolic disorders and eye diseases, providing insights into the genetic factors underlying obesity and vision problems.

TPGS2 (Tocopherol (Alpha) Transfer Protein-Like): TPGS2 is a gene that encodes a protein involved in the metabolism and transport of vitamin E within cells. It contributes to antioxidant defence and cell signalling, and plays a role in maintaining the health of the nervous system and other vitamin E-sensitive pathways.

TPGS2

ORMDO3 (Oligoribonuclease, mitochondrial): ORMDO3 is a gene that encodes an enzyme essential for maintaining cellular homeostasis within the mitochondria. ORMDO3 specifically degrades short mitochondrial RNA fragments, helping to regulate mitochondrial gene expression and ensuring proper mitochondrial function. Dysregulation of ORMDO3 can lead to RNA accumulation, impaired mitochondrial activity, and effects on overall cellular health, with potential links to mitochondrial-related disorders.

ORMDO3

PIK3C2A (Phosphatidylinositol-4-Phosphate 3-Kinase Catalytic Subunit Type 2 Alpha): PIK3C2A is a member of the PI3K family and a key regulator in cell signalling pathways that control cell growth and survival. It is involved in membrane trafficking, insulin signalling, and cytoskeletal dynamics. Dysregulation of PIK3C2A can contribute to the development of diseases such as cancer and metabolic disorders.

PIK3C2A

MAML3 (Mastermind-Like Transcriptional Coactivator 3): MAML3 is a gene that reflects its role in transcriptional coactivation. It interacts with multiple transcription factors to enhance their activity, thereby influencing gene expression patterns. MAML3 is important for transcriptional regulation and is implicated in developmental processes and cell differentiation.

MAML3

PRELID1 (Prelamin A-Related Integral Membrane Protein 1): PRELID1 is a gene involved in the biology of the nuclear envelope. It plays a crucial role in the processing of prelamin A, the precursor to lamin A, which is a vital structural component of the nuclear envelope. Proper function of PRELID1 is essential for maintaining nuclear structure and integrity, and changes in this gene may impact nuclear organisation and cellular function.

PRELID1

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

PRIMA1

MDFI (MyoD Family Inhibitor): MDFI is a gene involved in regulating muscle differentiation and development. It acts as an inhibitor of MyoD family transcription factors, which are key regulators of myogenesis. By modulating their activity, MDFI helps control muscle cell proliferation and differentiation, playing a crucial role in muscle formation and repair. Dysregulation of MDFI can affect muscle development and regeneration.

MDFI

MC4R (Melanocortin 4 Receptor): MC4R is a G protein-coupled receptor that plays a crucial role in regulating energy balance, appetite, and body weight. Mutations in MC4R are among the most common genetic causes of obesity, emphasising its importance in controlling energy homeostasis. It is also a target for developing obesity treatments.

MC4R

SBF2 (SET Binding Factor 2): SBF2 is a protein involved in nerve development and function. It plays a crucial role in maintaining the structure and health of peripheral nerves. Mutations in SBF2 have been associated with Charcot-Marie-Tooth disease, a hereditary neurological disorder that can lead to nerve degeneration, muscle weakness, and loss of sensation.

SBF2

PPP6R2 (Protein Phosphatase 6 Regulatory Subunit 2): PPP6R2 is a gene that encodes a regulatory subunit of protein phosphatase 6 (PP6). PP6 is involved in the dephosphorylation of target proteins and plays key roles in cell cycle regulation, DNA damage repair, and cellular signalling. PPP6R2 helps modulate the activity and specificity of PP6, influencing these critical cellular processes.

PPP6R2

SEMA6D (Semaphorin 6D): SEMA6D is a gene that encodes a protein belonging to the semaphorin family, which is involved in axon guidance and neural development. SEMA6D plays a role in neuronal signalling and migration during development. It may influence the formation of neural circuits and has implications in neurodevelopmental disorders.

SEMA6D

TIAM2, also known as T-lymphoma invasion and metastasis-inducing protein 2, is a key member of the TIAM family of guanine nucleotide exchange factors (GEFs). Primarily located in the cytoplasm, TIAM2 is essential for regulating cellular processes, especially those involving cytoskeletal dynamics, cell migration, and invasion. A defining feature of TIAM2 is its role as a molecular switch for activating Rho GTPases, particularly Rac1. Through its GEF activity, TIAM2 facilitates the exchange of GDP for GTP on Rac1, triggering downstream signalling pathways that control actin cytoskeleton rearrangements.

TIAM2

HNMT (Histamine N-Methyltransferase): HNMT is an enzyme responsible for deactivating histamine through methylation. It plays a crucial role in histamine metabolism, and variations in this gene can influence histamine-related pathways, impacting allergic reactions and other conditions associated with histamine.

HNMT

RTL1 (Retrotransposon Like 1): RTL1 is a gene believed to have originated from a retrotransposon and plays a key role in placental development. It exhibits imprinted expression, meaning it is active from only one parental allele. Dysregulation of RTL1 can contribute to disorders associated with genomic imprinting, such as Beckwith-Wiedemann syndrome.

RTL1

RPS20 (Ribosomal Protein S20): RPS20 is a ribosomal protein that plays a key role in ribosome assembly and protein synthesis. It is a component of the small ribosomal subunit and is essential for proper translation. Mutations in RPS20 and other ribosomal proteins can lead to ribosomopathies, a group of disorders characterised by defective ribosome function and developmental abnormalities.

RPS20

MDGA1 (MAM Domain Containing Glycosylphosphatidylinositol Anchor 1): MDGA1 is a protein involved in neural development and cell adhesion. It plays a key role in axon guidance and contributes to neural connectivity and synaptic function.

MDGA1

GPR25 (G Protein-Coupled Receptor 25): GPR25 is a receptor that belongs to the G protein-coupled receptor family. It plays a role in physiological processes such as signal transduction and cell communication. Although its exact functions in human health and disease are still being studied, it is believed to be involved in various cellular activities.

GPR25

EDA2R, also known as Ectodysplasin A2 receptor, is a protein encoded by the EDA2R gene. It belongs to the tumour necrosis factor receptor (TNFR) superfamily and acts as a receptor for ectodysplasin A2 (EDA-A2), a signalling molecule. EDA2R plays a key role in mediating EDA-A2 signalling during embryonic development, which regulates the formation and patterning of ectodermal tissues such as hair, teeth, and sweat glands.

EDA2R

THEMIS2 (Thymocyte Selection Associated Family Member 2): THEMIS2 is a gene primarily expressed in immune cells and involved in regulating innate immune responses. It participates in signalling pathways that influence the activation and function of macrophages and B cells. Its role in immune regulation suggests potential involvement in inflammatory diseases and makes it a possible target for modulating immune activity in autoimmunity and infection.

THEMIS2

LRRC37A (Leucine Rich Repeat Containing 37A): LRRC37A is a gene situated in a complex genomic region and is associated with brain development. It has been linked to neurodevelopmental disorders, such as autism spectrum disorder, although its exact role and underlying mechanisms remain under investigation.

LRRC37A

MROH8 (Maestro Heat Like Repeat Family Member 8): MROH8 is a gene that encodes a protein containing heat-like repeat domains, which are involved in mediating protein–protein interactions. Its specific biological role is not yet fully understood and remains under investigation.

MROH8

SESN3 (Sestrin 3): SESN3 is a member of the sestrin family of stress-responsive proteins. It plays a role in regulating cell growth and metabolism, particularly under conditions of cellular stress. SESN3 also contributes to antioxidant defence and has been linked to metabolic regulation, with potential implications for conditions such as obesity and diabetes.

SESN3

PTGER4 (Prostaglandin E Receptor 4): PTGER4 is a gene that encodes a receptor for prostaglandin E2 (PGE2), a lipid mediator involved in inflammation and immune responses. PTGER4 plays a key role in regulating immune cell activation, cytokine production, and other cellular functions, influencing the body’s inflammatory processes. It has been studied in the context of autoimmune and inflammatory diseases.

PTGER4

PTPRT (Protein Tyrosine Phosphatase, Receptor Type T): PTPRT is a gene that encodes a protein belonging to the protein tyrosine phosphatase family, which is important for cell signalling. It plays a role in regulating cellular processes such as cell growth and differentiation. Mutations in PTPRT have been linked to several cancers, particularly colorectal cancer, due to its involvement in signalling pathways that control cell proliferation.

PTPRT

MICAL2 (Molecule Interacting with CasL 2): MICAL2 is an enzyme belonging to the MICAL family, recognised for regulating cytoskeletal dynamics through the oxidation of actin. MICAL2 plays a key role in controlling the disassembly of actin filaments, which influences cell shape, migration, and intracellular transport. Its activity is essential for processes such as neurite outgrowth, axon guidance, and the maintenance of synaptic and vascular structures. By modulating the cytoskeleton, MICAL2 supports cell communication, differentiation, and movement. Dysregulation of MICAL2 has been linked to cancer progression, neurological disorders, and vascular diseases.

MICAL2

MRPS9 (Mitochondrial Ribosomal Protein S9): MRPS9 is a component of the mitochondrial ribosome, essential for the synthesis of proteins within mitochondria. It plays a vital role in producing proteins required for mitochondrial function and energy generation. Impairments in MRPS9 can reduce mitochondrial efficiency and may be associated with mitochondrial disorders, affecting overall cellular energy metabolism.

MRPS9

TP63 (Tumour Protein P63): TP63 is a member of the p53 family of transcription factors that plays a key role in the development and maintenance of epithelial tissues, as well as in cell cycle regulation and programmed cell death. It is involved in embryonic development, stem cell maintenance, and tumourigenesis. Mutations in TP63 can cause various developmental disorders and have been linked to certain cancers. Research continues to explore its dual roles in normal cell function and disease.

TP63

OXTR (Oxytocin Receptor): OXTR is a gene that encodes the receptor for oxytocin, a hormone involved in social bonding, sexual reproduction, childbirth, and maternal behaviours. It plays a key role in regulating social interactions and trust, and dysregulation may contribute to conditions such as autism and social anxiety disorders.

OXTR

NFE2 (Nuclear Factor, Erythroid 2): NFE2 is a transcription factor that regulates genes involved in erythropoiesis, the production of red blood cells. It plays a key role in the development and maturation of erythroid cells. Changes or mutations in NFE2 can affect red blood cell production and may contribute to blood disorders.

NFE2

RWDD3 (RWD Domain Containing 3): RWDD3 is a protein whose function is not yet fully understood. It is being studied for its potential roles in cellular processes and its significance to human health and disease.

RWDD3

SARDH (Sarcosine Dehydrogenase): SARDH is an enzyme involved in the metabolism of sarcosine, an intermediate in the conversion of choline to glycine. It plays a crucial role in one-carbon metabolism, which is essential for processes such as DNA methylation. Dysfunction of SARDH can affect metabolic pathways and has been associated with certain metabolic disorders.

SARDH

TMPRSS4 (Transmembrane Protease, Serine 4): TMPRSS4 is a member of the transmembrane serine protease family, located on the cell surface and involved in activating proteins by cleaving peptide bonds. TMPRSS4 plays important roles in physiological and pathological processes, including cell migration, invasion, and the regulation of epithelial-mesenchymal transition (EMT), which is critical for development, wound healing, and cancer metastasis. Its overexpression has been linked to the progression of various cancers, making TMPRSS4 a potential biomarker for cancer diagnosis and prognosis.

TMPRSS4

MPO (Myeloperoxidase): MPO is an enzyme predominantly found in neutrophils and plays a vital role in the body’s defence system. It produces hypochlorous acid and other reactive molecules from hydrogen peroxide to fight bacteria and pathogens. Although crucial for immune defence, MPO activity can also lead to tissue damage during inflammation and has been associated with diseases, including cardiovascular conditions, due to its involvement in oxidative stress.

PVR (Poliovirus Receptor): PVR is a transmembrane glycoprotein that acts as a receptor for poliovirus and related enteroviruses, enabling viral entry and infection. Beyond its role in viral recognition, PVR is crucial for cell-to-cell adhesion, immune regulation, and tissue homeostasis. It supports the integrity of epithelial and endothelial barriers through its participation in adherens and tight junctions. Interactions between PVR and ligands such as TIGIT and DNAM-1 help regulate immune cell activation, affecting both innate and adaptive immune responses. Dysregulation of PVR expression or function can significantly impact immune function and tissue integrity.

CACNA1D (Calcium Voltage-Gated Channel Subunit Alpha1 D): CACNA1D is a gene that encodes a subunit of the L-type voltage-dependent calcium channel, which is essential for regulating calcium influx in various cell types, especially in muscle and nerve cells. Mutations in this gene have been linked to conditions such as autism spectrum disorders, epilepsy, and certain cardiac dysfunctions.

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