Gene Reference Library

ATP Binding Cassette Subfamily A Member 1

Clinical detailABC transporter mediating cholesterol and phospholipid efflux to apolipoproteins; key driver of reverse cholesterol transport and HDL biogenesis.

ATP Binding Cassette Subfamily B Member 1

Clinical detailEncodes P-glycoprotein (MDR1); ATP-dependent efflux pump expelling drugs, toxins, and xenobiotics across cell membranes; major determinant of drug bioavailability.

ATP Binding Cassette Subfamily C Member 2

Clinical detailMultidrug resistance-associated protein 2 (MRP2); transports conjugated bilirubin, glucuronides, and glutathione conjugates into bile canaliculi for hepatic elimination.

ATP Binding Cassette Subfamily G Member 2

Clinical detailHalf-transporter regulating renal and intestinal uric acid secretion; loss-of-function variants are the leading Mendelian cause of hyperuricemia and gout.

Acyl-CoA Oxidase 1

Clinical detailPeroxisomal acyl-CoA oxidase; catalyzes the first oxidative step in beta-oxidation of very-long-chain and branched-chain fatty acids.

Alpha-Actinin-3

Clinical detailStructural Z-disc protein of fast-twitch (type IIx) skeletal muscle fibres; R577X (rs1815739) null variant alters fibre-type composition and power-vs-endurance phenotype.

Adducin 1

Clinical detailCytoskeletal adducin subunit modulating Na⁺/K⁺-ATPase in renal tubules; Gly460Trp variant increases sodium reabsorption, contributing to salt-sensitive hypertension.

Adiponectin

Clinical detailAdipokine activating AMPK and PPARα signalling; enhances insulin sensitivity, promotes fatty acid oxidation, and exerts anti-inflammatory effects on vascular endothelium.

Adrenoceptor Beta 2

Clinical detailG-coupled beta-2 adrenergic receptor mediating catecholamine-induced lipolysis and bronchodilation; Arg16Gly and Gln27Glu variants alter agonist down-regulation.

GAderneneosc Adrenoceptor Beta 3

Clinical detailBetDa-a3t aad rCeonleurgmicn rseceptor activDatueasl DefinitiTohnesrmogenesis in adipose tissue and bladder; thermogenesis via UCP1 and promotes lipolysis; Trp64Arg variant associated with obesity risk.

Angiotensinogen

Clinical detailAngiotensinogen; substrate for renin in the RAAS cascade generating angiotensin I; M235T variant raises plasma levels and is associated with essential hypertension.

Angiotensin II Receptor Type 1

Clinical detailAngiotensin II type-1 receptor; Gq-coupled GPCR mediating vasoconstriction, aldosterone secretion, and vascular smooth muscle proliferation; A1166C variant linked to hypertension.

Aryl Hydrocarbon Receptor

Clinical detailLigand-activated transcription factor sensing polycyclic aromatic hydrocarbons and dioxins; forms complex with ARNT to induce CYP1A1/CYP1B1 for xenobiotic detoxification.

Aldehyde Dehydrogenase 2

Clinical detailMitochondrial aldehyde dehydrogenase 2; oxidises acetaldehyde to acetate; the *2 (rs671) dominant-negative variant causes acetaldehyde accumulation and alcohol flush syndrome.

Amelogenin X-Linked

Clinical detailX-linked amelogenin; major enamel matrix protein controlling hydroxyapatite crystal nucleation and growth during tooth enamel development; mutations cause amelogenesis imperfecta.

Adenosine Monophosphate Deaminase 1

Clinical detailAMP deaminase 1 in skeletal muscle; converts AMP to IMP and ammonia during high-intensity exercise, maintaining the adenylate energy charge; Q12X variant reduces activity.

Amylase Alpha 1 (Salivary)

Clinical detailSalivary alpha-amylase initiating starch hydrolysis; copy number variation (CNV) correlates with high-starch dietary adaptation and salivary amylase protein levels.

Ankyrin Repeat And Kinase Domain Containing 1

Clinical detailAnkyrin-repeat and kinase domain protein genetically linked to DRD2; Taq1A (rs1800497) variant reduces striatal D2 receptor density, influencing reward sensitivity.

Apolipoprotein A2

Clinical detailSecond-most-abundant HDL apolipoprotein; modulates hepatic lipase activity and HDL remodelling; -265T>C promoter variant interacts with saturated fat to raise BMI.

Apolipoprotein A5

Clinical detailApolipoprotein A-V stimulates lipoprotein lipase activity and promotes hepatic VLDL uptake via proteoglycans; loss-of-function variants cause severe hypertriglyceridaemia.

Apolipoprotein B

Clinical detailApolipoprotein B-100; obligate structural protein of VLDL, IDL, and LDL; sole ligand for LDL receptor-mediated clearance; primary driver of atherogenic lipoprotein burden.

Apolipoprotein C3

Clinical detailApolipoprotein C-III; inhibits lipoprotein lipase and hepatic remnant uptake; elevated levels predict cardiovascular risk; loss-of-function variants are cardioprotective.

Apolipoprotein E

Clinical detailApolipoprotein E mediating hepatic clearance of chylomicron and VLDL remnants; ε4 allele impairs clearance and is the strongest genetic risk factor for late-onset Alzheimer's disease.

ATPase Plasma Membrane Ca2+ Transporting 1

Clinical detailPlasma membrane Ca²⁺-ATPase type 1; exports cytosolic calcium against concentration gradient; GWAS variants associated with systolic blood pressure and hypertension risk.

Auxin Response Element 1

Clinical detailRegulatory locus involved in cellular auxin/growth-signal response pathways; precise clinical characterisation is still under investigation.

Butyrylcholinesterase

Clinical detailButyrylcholinesterase (pseudocholinesterase); hydrolyses succinylcholine, aspirin, and organophosphate compounds; atypical variants cause prolonged neuromuscular blockade.

Beta-Carotene Oxygenase 1

Clinical detailBeta-carotene-15,15'-oxygenase; cleaves beta-carotene to retinal (pro-vitamin A); A379V and R267S variants substantially reduce enzymatic activity and vitamin A status.

Brain Derived Neurotrophic Factor

Clinical detailBrain-derived neurotrophic factor; binds TrkB to promote neuronal survival, synaptic plasticity, and LTP; Val66Met variant impairs activity-dependent BDNF secretion.

BDNF Antisense RNA

Clinical detailBDNF antisense long non-coding RNA; epigenetically silences BDNF transcription via histone H3K27 methylation; modulates neuroplasticity and mood regulation.

Calcium Sensing Receptor

Clinical detailCalcium-sensing receptor; Gq/Gi-coupled GPCR detecting extracellular Ca²⁺; regulates PTH release, renal calcium reabsorption, and calcitonin secretion.

Cystathionine Beta-Synthase

Clinical detailCystathionine beta-synthase; catalyses condensation of homocysteine with serine to form cystathionine (transsulfuration); deficiency causes homocystinuria and hyperhomocysteinaemia.

Cholesteryl Ester Transfer Protein

Clinical detailCholesteryl ester transfer protein; facilitates bidirectional exchange of cholesterol esters and triglycerides between HDL and atherogenic lipoproteins.

Claudin 16

Clinical detailClaudin-16 (paracellin-1); tight junction protein in the thick ascending limb of Henle; forms paracellular cation channels for Mg²⁺ and Ca²⁺ reabsorption.

Claudin 19

Clinical detailClaudin-19; co-assembles with claudin-16 in renal tight junctions to create cation-selective pores; mutations cause hypomagnesaemia with secondary hypocalciuria.

Circadian Locomotor Output Cycles Kaput

Clinical detailCircadian locomotor output cycles kaput; bHLH-PAS transcription factor forming CLOCK:BMAL1 heterodimer to drive 24-hour transcriptional-translational feedback loop.

Cannabinoid Receptor 1

Clinical detailCannabinoid receptor type 1; Gᵢ-coupled GPCR activated by endocannabinoids; regulates appetite, energy balance, pain, and mesolimbic dopamine reward signalling.

Collagen Type I Alpha 1

Clinical detailPro-α1 chain of type I collagen; fibril-forming protein providing tensile strength to bone, skin, tendon, and cornea; Sp1 binding-site variant affects bone mineral density.

Catechol-O-Methyltransferase

Clinical detailCatechol-O-methyltransferase; inactivates dopamine, norepinephrine, and catechol oestrogens via S-adenosylmethionine-dependent methylation; Val158Met alters prefrontal dopamine tone.

Ceruloplasmin

Clinical detailCeruloplasmin; major copper-carrying ferroxidase that oxidises Fe²⁺ to Fe³⁺, enabling transferrin-mediated iron export from cells; deficiency

Carbamoyl-Phosphate Synthase 1

Clinical detailCarbamoyl-phosphate synthase 1; catalyses the first and rate-limiting step of the hepatic urea cycle, detoxifying ammonia derived from amino acid catabolism.

Corticotropin Releasing Hormone Receptor 1

Clinical detailCorticotropin-releasing hormone receptor 1; G-coupled receptor in pituitary corticotrophs; mediates ACTH release in response to CRH during the HPA stress response.

C-Reactive Protein

Clinical detailC-reactive protein; pentraxin acute-phase protein produced by hepatocytes in response to IL-6; activates complement, opsonises pathogens, and predicts cardiovascular risk.

Cubilin

Clinical detailCubilin; endocytic receptor mediating ileal intrinsic factor–B12 complex absorption and renal tubular protein reabsorption in cooperation with megalin (LRP2).

Cytochrome P450 Family 11 Subfamily B Member 2

Clinical detailAldosterone synthase; catalyses 11β-hydroxylation, 18-hydroxylation, and 18-oxidation of deoxycorticosterone to aldosterone in adrenal zona glomerulosa.

Cytochrome P450 Family 19 Subfamily A Member 1

Clinical detailAromatase; catalyses irreversible conversion of androgens (testosterone, androstenedione) to oestrogens (oestradiol, oestrone) via three sequential hydroxylation steps.

Cytochrome P450 Family 1 Subfamily A Member 2

Clinical detailHepatic CYP1A2 metabolises caffeine (>90%), theophylline, clozapine, and dietary heterocyclic amines; *1F allele (rs762551) confers inducible high-activity phenotype.

Cytochrome P450 Family 27 Subfamily B Member 1

Clinical detail25-Hydroxyvitamin D3 1α-hydroxylase; catalyses renal and extrarenal conversion of 25(OH)D to 1,25(OH)₂D (calcitriol); regulated by PTH, FGF23, and calcium.

Cytochrome P450 Family 2 Subfamily R Member 1

Clinical detailHepatic vitamin D 25-hydroxylase; performs initial 25-hydroxylation of cholecalciferol; rs10741657 variant reduces 25(OH)D levels and increases vitamin D insufficiency risk.

Cytochrome P450 Family 3 Subfamily A Member 4

Clinical detailMost abundant hepatic P450, metabolising ~50% of pharmaceuticals; extensively induced by rifampicin and PXR/CAR agonists; major source of drug–drug interactions.

Cytochrome P450 Family 4 Subfamily F Member 2

Clinical detailOmega-hydroxylase for vitamin K₁ and vitamin E (tocopherol); CYP4F2*3 (V433M) reduces hepatic vitamin K catabolism, requiring lower warfarin doses.

Cytochrome P450 Family 7 Subfamily A Member 1

Clinical detailCholesterol 7α-hydroxylase; rate-limiting enzyme of the classical bile acid synthesis pathway; regulated by FXR-mediated FGF19/FGFR4 signalling.

Dopamine Beta-Hydroxylase

Clinical detailDopamine beta-hydroxylase; copper-containing monooxygenase converting dopamine to norepinephrine in sympathetic neurons and adrenal chromaffin cells.

7-Dehydrocholesterol Reductase

Clinical detail7-Dehydrocholesterol reductase; catalyses final step of cholesterol synthesis and produces the skin vitamin D precursor 7-DHC; deficiency causes Smith–Lemli–Opitz syndrome.

Dihydrofolate Reductase

Clinical detailDihydrofolate reductase; reduces DHF to THF using NADPH; essential for purine and thymidylate synthesis; target of antifolates (methotrexate, trimethoprim).

Deiodinase Type 1

Clinical detailIodothyronine deiodinase 1; selenoprotein catalysing outer-ring deiodination of T4→T3 and inner-ring deiodination of rT3→T2 in liver, kidney, and thyroid.

Deiodinase Type 2

Clinical detailIodothyronine deiodinase 2; selenoprotein providing intracellular T3 from T4 in brain, pituitary, and muscle; Thr92Ala variant reduces enzymatic efficiency.

Dopamine Receptor D2

Clinical detailDopamine receptor D2; Gᵢ/G₀-coupled inhibitory GPCR mediating reward, motor control, and prolactin inhibition; target of all antipsychotics and dopamine agonists.

Endothelin 1

Clinical detailEndothelin-1; 21-amino-acid vasoconstrictor peptide cleaved by endothelin-converting enzyme; activates ETA/ETB receptors on vascular smooth muscle to raise blood pressure.

Epoxide Hydrolase 1

Clinical detailEpoxide hydrolase 1; hydrolyses arene and aliphatic epoxides from CYP metabolism, generating diols for conjugation; Tyr113His variant reduces detoxification capacity.

Estrogen Receptor 1

Clinical detailOestrogen receptor alpha; ligand-activated nuclear transcription factor mediating genomic and rapid non-genomic oestrogen signalling in reproductive, skeletal, and cardiovascular tissues.

Fatty Acid Amide Hydrolase

Clinical detailFatty acid amide hydrolase; terminates endocannabinoid signalling by hydrolyzing anandamide and other fatty acid amides; C385A variant reduces enzyme activity.

Fatty Acid Binding Protein 2

Clinical detailIntestinal fatty acid-binding protein 2; shuttles long-chain fatty acids across enterocyte cytoplasm to the ER for chylomicron assembly; Ala54Thr variant increases fat absorption.

Fatty Acid Desaturase 1

Clinical detailFatty acid desaturase 1 (Δ5-desaturase); catalyses terminal desaturation steps converting DGLA→AA and EPA→DHA; variants determine omega-6/omega-3 PUFA status.

Fatty Acid Desaturase 2

Clinical detailFatty acid desaturase 2 (Δ6-desaturase); catalyses rate-limiting conversion of linoleic acid→GLA and ALA→SDA; regulates long-chain PUFA biosynthesis from dietary precursors.

Fibroblast Growth Factor 21

Clinical detailFibroblast growth factor 21; hepatic hormone signalling through FGFR1-KLB complex in adipose and brain; regulates macronutrient preference, fatty acid oxidation, and insulin sensitivity.

Forkhead Box E1

Clinical detailForkhead box E1 transcription factor; controls thyroid gland morphogenesis and PAX8-dependent thyroglobulin gene expression; variants confer thyroid cancer susceptibility.

Fat Mass And Obesity-Associated

Clinical detailFat mass and obesity-associated protein (m6A RNA demethylase); intronic variants in obesity-associated region disrupt IRX3/IRX5 regulation, shifting adipocytes toward fat storage.

Fucosyltransferase 2

Clinical detailFucosyltransferase 2; encodes secretor enzyme adding H-antigen to mucosal surfaces; non-secretor (W143X) status alters gut microbiome, B12 absorption, and infection susceptibility.

Glucose-6-Phosphatase Catalytic Subunit 2

Clinical detailGlucose-6-phosphatase catalytic subunit 2 (IGRP); expressed exclusively in pancreatic beta cells; modulates glucose-stimulated insulin secretion threshold and fasting glycaemia.

Glutamate Decarboxylase 2

Clinical detailGlutamate decarboxylase 2; synthesises GABA from glutamate in neurons and pancreatic beta cells; promoter variants associated with obesity via hypothalamic appetite dysregulation.

Vitamin D Binding Protein

Clinical detailVitamin D-binding protein (DBP/Gc-globulin); transports 25(OH)D and 1,25(OH)₂D in plasma; modulates free-vitamin-D bioavailability; Gc1F/1S/2 variants alter binding affinity.

Glucokinase Regulator

Clinical detailGlucokinase regulatory protein; allosteric inhibitor of GCK in hepatocytes; P446L variant reduces inhibition, increasing hepatic glucose uptake but also de novo lipogenesis.

Gamma-Glutamyl Carboxylase

Clinical detailGamma-glutamyl carboxylase; post-translationally carboxylates glutamate residues in vitamin K-dependent proteins (clotting factors II, VII, IX, X; osteocalcin; MGP).

Gastric Inhibitory Polypeptide Receptor

Clinical detailGlucose-dependent insulinotropic polypeptide receptor; G-coupled incretin receptor in beta cells and adipocytes; mediates postprandial insulin potentiation.

Glucagon Like Peptide 1 Receptor

Clinical detailGlucagon-like peptide-1 receptor; G-coupled receptor mediating glucose-dependent insulinotropia, glucagon suppression, gastric emptying delay, and satiety signalling.

G Protein Subunit Beta 3

Clinical detailG-protein beta-3 subunit; C825T splice variant produces truncated β3 isoform, altering intracellular signal transduction and associating with obesity and hypertension.

Gonadotropin Releasing

Clinical detailGonadotropin-releasing hormone receptor; Gq-coupled receptor in pituitary gonadotrophs; mediates LH/FSH pulsatile release regulating

Glutathione Peroxidase 1

Clinical detailGlutathione peroxidase 1; selenoprotein reducing H₂O₂ and lipid hydroperoxides using GSH; Pro198Leu variant reduces catalytic efficiency and antioxidant protection.

Glutamate Ionotropic Receptor Kainate Type 1

Clinical detailGlutamate ionotropic receptor kainate type 1; Glu5 subunit forming kainate receptors at synapses; modulates glutamatergic neurotransmission and addiction pathways.

Glutathione S-Transferase Omega 1

Clinical detailGlutathione S-transferase omega 1; catalyses deglutathionylation reactions and reduces monomethylarsonate; A140D variant reduces arsenic biotransformation efficiency.

Glutathione S-Transferase Pi 1

Clinical detailGlutathione S-transferase pi 1; conjugates electrophilic compounds (carcinogens, chemotherapy agents) with GSH; Ile105Val variant reduces detoxification capacity.

Homeostatic Iron Regulator

Clinical detailHomeostatic iron regulator; interacts with TfR1 to regulate intestinal iron absorption via hepcidin; C282Y and H63D variants are the primary causes of hereditary haemochromatosis.

Major Histocompatibility Complex, Class I, B

Clinical detailMHC class I molecule presenting intracellular peptides to CD8⁺ cytotoxic T cells; B*57:01 allele strongly predicts abacavir hypersensitivity; B*58:01 predicts allopurinol reaction.

Major Histocompatibility Complex, Class II, DQ Alpha 1

Clinical detailMHC class II alpha chain; pairs with DQB1 to form DQ heterodimers presenting extracellular antigens to CD4⁺ T cells; DQA1*05:01/DQB1*02 strongly associates with coeliac disease.

HMG-CoA Reductase

Clinical detailHMG-CoA reductase; rate-limiting enzyme of the cholesterol biosynthesis (mevalonate) pathway; pharmacological target of statins; variants modulate statin LDL-lowering response.

5-Hydroxytryptamine Receptor 1A

Clinical detailSerotonin receptor 1A; Gᵢ-coupled autoreceptor in raphe nuclei and postsynaptic receptor in limbic regions; modulates anxiety, depression susceptibility, and antidepressant response.

5-Hydroxytryptamine Receptor 2A

Clinical detailSerotonin receptor 2A; Gq-coupled receptor mediating cortical excitation, appetite regulation, and psychedelic drug effects; variants influence antidepressant efficacy and obesity.

Interleukin 6

Clinical detailInterleukin-6; pleiotropic cytokine signalling through JAK-STAT3 axis; orchestrates acute-phase response, hepatic CRP induction, and skeletal muscle protein catabolism.

Insulin Receptor Substrate 1

Clinical detailInsulin receptor substrate 1; docking scaffold phosphorylated by the insulin receptor, propagating PI3K-AKT and MAPK signalling; variants impair insulin signalling and increase T2D risk.

Potassium Inwardly Rectifying Channel Subfamily J Member 11

Clinical detailKir6.2 pore-forming subunit of the pancreatic ATP-sensitive K⁺ channel (K_ATP); closes in response to ATP rise post-meal, triggering insulin secretion; E23K variant alters gating.

Potassium Voltage-Gated Channel Subfamily Q Member 1

Clinical detailVoltage-gated K⁺ channel alpha subunit; regulates pancreatic beta cell repolarisation and insulin secretion; GWAS variants in intron 15 strongly associate with type 2 diabetes.

Potassium Channel Tetramerization Domain Containing 15

Clinical detailPotassium channel tetramerisation domain protein; expressed in the hypothalamus and dorsal vagal complex; GWAS variants associate with obesity and BMI via appetite circuits.

Lactase

Clinical detailLactase (intestinal lactase-phlorizin hydrolase); hydrolyses lactose to glucose and galactose; expression controlled by MCM6 enhancer variants determining adult lactase persistence.

Leptin

Clinical detailLeptin; 167-amino-acid adipokine signalling adipose energy stores to the hypothalamus; binds LepR to suppress appetite and promote energy expenditure; deficiency causes morbid obesity.

Leptin Receptor

Clinical detailLeptin receptor (Ob-R); single-pass transmembrane receptor activating JAK2-STAT3 and PI3K pathways in hypothalamic neurons; mutations cause leptin-resistant obesity and hypogonadism.

Lipase C, Hepatic Type

Clinical detailHepatic lipase; triglyceride lipase and phospholipase that remodels IDL→LDL and converts HDL2→HDL3; -514C>T promoter variant raises HDL-cholesterol levels.

Apolipoprotein(a)

Clinical detailLipoprotein(a); carries apolipoprotein(a) covalently linked to apoB-100 via disulfide bond; inhibits plasminogen activation; high Lp(a) is an independent cardiovascular risk factor.

Lipoprotein Lipase

Clinical detailLipoprotein lipase; rate-limiting enzyme hydrolyzing triglycerides in circulating VLDL and chylomicrons; deficiency causes severe hypertriglyceridaemia and pancreatitis risk.

MAF BZIP Transcription Factor F

Clinical detailMAF bZIP transcription factor F; regulates antioxidant response element (ARE)-driven gene expression including NQO1 and haem oxygenase; involved in redox stress response.

Monoamine Oxidase A

Clinical detailMonoamine oxidase A; mitochondrial flavoenzyme catabolising serotonin, norepinephrine, and dopamine; VNTR promoter variants affect activity and associate with behaviour/mood.

Methionine Adenosyltransferase 1A

Clinical detailMethionine adenosyltransferase 1A; hepatic enzyme synthesising S-adenosylmethionine (SAM), the universal methyl donor for methylation of DNA, RNA, proteins, and phospholipids.

Melanocortin 4 Receptor

Clinical detailMelanocortin-4 receptor; G-coupled receptor in hypothalamic PVN neurons mediating leptin-driven satiety via POMC/α-MSH; haploinsufficiency is the most common monogenic obesity cause.

Minichromosome Maintenance Complex Component 6

Clinical detailMini-chromosome maintenance protein 6; contains enhancer region (LCT-13910 C/T) regulating LCT transcription; T allele at -13910 confers adult lactase persistence in Europeans.

Methylenetetrahydrofolate Dehydrogenase 1

Clinical detailMethylenetetrahydrofolate dehydrogenase 1; trifunctional enzyme interconverting one-carbon units in folate cycle; R653Q variant reduces enzyme activity and raises homocysteine.

Methylenetetrahydrofolate Reductase

Clinical detailMethylenetetrahydrofolate reductase; converts 5,10-methyleneTHF to 5-methylTHF for homocysteine remethylation; C677T (Ala222Val) thermolabile variant reduces activity 50–70%.

Melatonin Receptor 1B

Clinical detailMelatonin receptor 1B in pancreatic beta cells; Gᵢ-coupled receptor suppressing insulin secretion; rs10830963 G-allele raises fasting glucose and type 2 diabetes risk.

Mechanistic Target Of Rapamycin Kinase

Clinical detailMechanistic target of rapamycin; serine/threonine kinase integrating nutrient, energy, and growth factor signals to regulate protein synthesis, autophagy, and cell growth.

5-Methyltetrahydrofolate-Homocysteine Methyltransferase

Clinical detailMethionine synthase (MS); B12-dependent enzyme catalysing remethylation of homocysteine to methionine using 5-methylTHF as methyl donor; A2756G variant alters activity.

5-Methyltetrahydrofolate-Homocysteine Methyltransferase Reductase

Clinical detailMethionine synthase reductase; maintains MTR in catalytically active state by reductively remethylating its cobalamin cofactor; A66G variant impairs cofactor regeneration.

Mucin 1, Cell Surface Associated

Clinical detailMucin-1 transmembrane glycoprotein; maintains epithelial barrier integrity in gut, lung, and kidney; tandem repeat polymorphisms influence tubular kidney disease risk.

Methylmalonyl-CoA Mutase

Clinical detailMethylmalonyl-CoA mutase; B12-dependent mitochondrial enzyme converting methylmalonyl-CoA to succinyl-CoA; deficiency causes methylmalonic acidaemia.

NAD Synthetase 1

Clinical detailNAD⁺ synthetase 1; catalyses final ATP-dependent amidation of nicotinic acid adenine dinucleotide (NaAD) to NAD⁺; regulates cellular NAD⁺ pool and energy metabolism.

Nicotinate Phosphoribos

Clinical detailNicotinic acid phosphoribosyltransferase; catalyses first step of the Preiss-Handler pathway converting nicotinic acid to NAD⁺ via NAMN;

N-Acetyltransferase 2

Clinical detailN-acetyltransferase 2; acetylates aromatic amines, hydrazines, and drugs (isoniazid, sulfamethoxazole); slow vs. rapid acetylator phenotype affects drug toxicity and cancer risk.

NBPF Member 3

Clinical detailNeuroblastoma breakpoint family member 3; linked to vitamin B6 metabolism via ALPL; common variants at this locus associate with circulating pyridoxal-5-phosphate (B6) levels.

Nitric Oxide Synthase 3

Clinical detailEndothelial nitric oxide synthase; Ca²⁺/calmodulin-activated enzyme producing NO in vascular endothelium; Glu298Asp variant reduces shear stress-induced NO bioavailability.

Neuropeptide Y

Clinical detailNeuropeptide Y; most potent orexigenic peptide acting via Y1/Y5 receptors in the hypothalamic arcuate nucleus; also regulates vascular tone and stress responses.

Nuclear Receptor Subfamily 3 Group C Member 1

Clinical detailGlucocorticoid receptor; ligand-activated transcription factor mediating cortisol-dependent regulation of metabolism, immunity, and the HPA axis feedback loop.

Nuclear Receptor Subfamily 3 Group C Member 2

Clinical detailMineralocorticoid receptor (aldosterone receptor); nuclear receptor mediating aldosterone-dependent sodium retention in renal collecting ducts and colon.

Opioid Receptor Mu 1

Clinical detailMu-opioid receptor; Gᵢ-coupled receptor mediating analgesia, euphoria, and addiction responses to endogenous opioids and opioid drugs; A118G variant alters receptor expression.

Oxytocin Receptor

Clinical detailOxytocin receptor; Gq-coupled GPCR mediating social bonding, uterine contractions, and lactation; variants associate with autism spectrum disorder and social anxiety.

Poly(ADP-Ribose) Polymerase 1

Clinical detailPoly(ADP-ribose) polymerase 1; DNA damage sensor and signalling enzyme adding PAR chains to histones to recruit repair machinery; target of PARP inhibitors in cancer.

Proprotein Convertase Subtilisin/Kexin Type 1

Clinical detailProprotein convertase subtilisin/kexin type 1 (PC1/3); cleaves proinsulin, POMC, and proglucagon; loss-of-function variants cause severe early-onset obesity and POMC deficiency.

Proprotein Convertase Subtilisin/Kexin Type 9

Clinical detailProprotein convertase subtilisin/kexin type 9; degrades hepatic LDL receptors by targeting them for lysosomal destruction; PCSK9 inhibitors are potent LDL-cholesterol lowering agents.

Phosphodiesterase 8B

Clinical detailPhosphodiesterase 8B; hydrolyses cAMP in thyroid and adrenal tissue; regulates TSH-driven cAMP signalling and thyroid hormone synthesis; variants associate with thyroid function.

Phosphatidylethanolamine N-Methyltransferase

Clinical detailPhosphatidylethanolamine N-methyltransferase; catalyses three-step methylation of PE to PC using SAM; hepatic PC biosynthesis pathway; V175M variant reduces VLDL secretion and choline production.

Patatin Like Phospholipase Domain Containing 3

Clinical detailPatatin-like phospholipase domain-containing protein 3; hepatic lipase/acyltransferase regulating triglyceride hydrolysis; I148M variant is the primary genetic determinant of NAFLD severity.

Peroxisome Proliferator Activated Receptor Alpha

Clinical detailPeroxisome proliferator-activated receptor alpha; nuclear receptor and master regulator of hepatic fatty acid oxidation, ketogenesis, and lipid metabolism; target of fibrate drugs.

Peroxisome Proliferator Activated Receptor Delta

Clinical detailPeroxisome proliferator-activated receptor delta (beta); regulates fatty acid catabolism in skeletal muscle and adipose tissue; promotes endurance capacity and insulin sensitivity.

Peroxisome Proliferator Activated Receptor Gamma

Clinical detailPeroxisome proliferator-activated receptor gamma; master transcription factor of adipogenesis and insulin sensitisation; Pro12Ala variant mildly reduces T2D risk; target of thiazolidinediones.

Polypyrimidine Tract Binding Protein 1

Clinical detailPolypyrimidine tract-binding protein 1; RNA-binding protein regulating alternative splicing, mRNA stability, and IRES-mediated translation of metabolic gene transcripts.

Prostaglandin-Endoperoxide Synthase 2

Clinical detailCyclooxygenase-2 (COX-2); inducible prostaglandin-endoperoxide synthase producing pro-inflammatory prostaglandins and thromboxanes; pharmacological target of NSAIDs.

Protein Tyrosine Phosphatase Non-Receptor Type 1

Clinical detailProtein tyrosine phosphatase 1B; dephosphorylates and inactivates insulin receptor and JAK2; negative regulator of insulin and leptin signalling; therapeutic target for T2D.

Scavenger Receptor Class B Member 1

Clinical detailScavenger receptor class B type 1; bi-directional cholesterol transporter mediating selective HDL cholesterol ester uptake in liver and steroidogenic tissues.

Selenoprotein P

Clinical detailSelenoprotein P; major selenium carrier in plasma delivering Se to peripheral tissues; contains 10 selenocysteine residues; Ala234Thr variant reduces selenium bioavailability.

SH2B Adaptor Protein 1

Clinical detailSH2B adaptor protein 1; enhances leptin receptor and insulin receptor signalling by amplifying JAK2 activity; variants at 16p11.2 locus strongly associate with BMI and obesity.

Serine Hydroxymethyltransferase 1

Clinical detailSerine hydroxymethyltransferase 1 (cytosolic); converts serine+THF to glycine+5,10-methyleneTHF, linking one-carbon metabolism to nucleotide biosynthesis.

Sucrase-Isomaltase

Clinical detailSucrase-isomaltase; brush-border disaccharidase hydrolyzing sucrose and maltose in the small intestinal epithelium; variants cause congenital sucrase-isomaltase deficiency.

Solute Carrier Family 12 Member 3

Clinical detailNa⁺-Cl⁻ co-transporter (NCC) in the distal convoluted tubule; site of thiazide diuretic action; loss-of-function mutations cause Gitelman syndrome (hypomagnesaemia, hypokalaemia).

Solute Carrier Family 19 Member 1

Clinical detailReduced folate carrier 1; proton-coupled antiporter mediating cellular uptake of 5-methylTHF and anti-folate drugs; G80A variant reduces folate transport efficiency.

Solute Carrier Family 23 Member 1

Clinical detailSodium-dependent vitamin C transporter 1 (SVCT1); mediates intestinal and renal reabsorption of vitamin C (ascorbate) from the tubular lumen.

Solute Carrier Family 23 Member 2

Clinical detailSodium-dependent vitamin C transporter 2 (SVCT2); transports ascorbate into metabolically active cells including neurons, adrenal, and immune cells for antioxidant protection.

Solute Carrier Family 2 Member 1

Clinical detailGlucose transporter 1 (GLUT1); basal, high-affinity glucose transporter expressed ubiquitously in erythrocytes and the blood-brain barrier; facilitates glucose entry into the CNS.

Solute Carrier Family 2 Member 2

Clinical detailGlucose transporter 2 (GLUT2); low-affinity, high-capacity glucose sensor/transporter in hepatocytes, pancreatic beta cells, and enterocytes; critical for glucose-stimulated insulin release.

Solute Carrier Family 30 Member 8

Clinical detailZinc transporter 8 (ZnT8); loads zinc into insulin secretory granules in pancreatic beta cells for insulin hexamer formation; R325W variant associates with T2D risk.

Solute Carrier Family 39 Member 8

Clinical detailZIP8 zinc/manganese transporter; mediates Mn²⁺ and Zn²⁺ uptake in liver and other tissues; A391T variant reduces manganese levels and associates with schizophrenia risk.

Solute Carrier Family 5 Member 5

Clinical detailSodium/iodide symporter (NIS); mediates active iodide uptake in thyroid follicular cells driven by the sodium gradient; essential for thyroid hormone synthesis.

Solute Carrier Family 6 Member 3

Clinical detailDopamine transporter (DAT1); terminates dopaminergic neurotransmission by reuptake of synaptic dopamine; target of cocaine, amphetamines, and methylphenidate.

Solute Carrier Family 6 Member 4

Clinical detailSerotonin transporter (SERT); reuptakes synaptic serotonin into presynaptic neurons; 5-HTTLPR promoter variant (S/L) affects expression and associates with mood, anxiety, and SSRI response.

Superoxide Dismutase 2

Clinical detailManganese superoxide dismutase 2; mitochondrial matrix antioxidant enzyme converting superoxide radicals to H₂O₂; Val16Ala signal-peptide variant alters mitochondrial import efficiency.

Sortilin 1

Clinical detailSortilin; propeptide-binding receptor mediating hepatic PCSK9 and ApoB secretion regulation; rs12740374 GWAS variant strongly associates with LDL-cholesterol levels.

Sulfite Oxidase

Clinical detailSulfite oxidase; molybdenum-containing mitochondrial enzyme catalysing terminal oxidation of sulfite to sulfate in cysteine catabolism; deficiency causes sulfite toxicity and neurodegeneration.

Taste 1 Receptor Member 2

Clinical detailTaste receptor type 1 member 2; T1R2 subunit of the T1R2/T1R3 heterodimeric sweet taste receptor detecting sugars, artificial sweeteners, and sweet amino acids.

Taste 2 Receptor Member 38

Clinical detailTaste receptor type 2 member 38; bitter taste receptor detecting phenylthiocarbamide (PTC) and glucosinolates; PAV/AVI haplotype determines taster/non-taster phenotype.

TBC1 Domain Family Member 4

Clinical detailTBC1 domain family member 4 (AS160); Rab-GAP protein regulating GLUT4 vesicle translocation; phosphorylated by AKT and AMPK during insulin and exercise stimulation.

Transcription Factor 7 Like 2

Clinical detailTranscription factor 7-like 2; Wnt pathway effector regulating GLP-1 production in gut L cells and proglucagon gene expression; rs7903146 is the strongest T2D risk variant.

Transferrin Receptor 2

Clinical detailTransferrin receptor 2; high-affinity receptor detecting plasma holotransferrin levels to signal hepcidin production; mutations cause type 3 hereditary haemochromatosis.

Transmembrane Serine Protease 6

Clinical detailMatriptase-2; transmembrane serine protease cleaving haemojuvelin to suppress hepcidin; loss-of-function variants cause iron-refractory iron deficiency anaemia (IRIDA).

Tumor Necrosis Factor

Clinical detailTumour necrosis factor; homotrimeric cytokine activating NF-κB and MAPK pathways; mediates systemic inflammation, insulin resistance, and tissue catabolism; -308G>A promoter variant raises levels. Tumour necrosis factor alpha (alternate locus designation); as above, pleiotropic pro-inflammatory cytokine mediating acute-phase response, cachexia, and immunological signalling.

TNF Receptor

Clinical detailTNF receptor superfamily member 1B (TNFR2); membrane-bound receptor mediating cell survival and pro-inflammatory NF-κB activation;

Transient Receptor Potential Cation Channel Subfamily M Member 6

Clinical detailTransient receptor potential cation channel subfamily M member 6; epithelial Mg²⁺ channel and kinase (chanzyme) in colon and distal tubule; essential for intestinal and renal Mg²⁺ absorption.

Transient Receptor Potential Vanilloid 1

Clinical detailTransient receptor potential vanilloid 1; polymodal nociceptor detecting capsaicin, protons, and heat (>43°C); mediates thermogenic effects and pain signalling; modulated by endocannabinoids.

Unknown Gene Placeholder

Clinical detailUncertain or proprietary genomic locus designation; specific clinical characterisation not established in current reference databases.

Uncoupling Protein 2

Clinical detailUncoupling protein 2; mitochondrial inner membrane proton channel dissipating the electrochemical gradient as heat; limits ROS production and modulates insulin secretion in beta cells.

Uromodulin

Clinical detailUromodulin (Tamm-Horsfall protein); most abundant urinary protein; forms polymers in tubular lumen preventing UTI and kidney stone formation; variants associate with CKD and gout.

Vitamin D Receptor

Clinical detailVitamin D receptor; nuclear receptor activated by 1,25(OH)₂D; regulates >200 target genes involved in calcium homeostasis, immune modulation, and cell proliferation.

Vascular Endothelial Growth Factor A

Clinical detailVascular endothelial growth factor A; hypoxia-inducible angiogenic cytokine binding VEGFR1/2 to stimulate endothelial proliferation, permeability, and new vessel formation.

Vitamin K Epoxide Reductase Complex Subunit 1

Clinical detailVitamin K epoxide reductase complex subunit 1; reduces vitamin K epoxide back to vitamin K for recycling of vitamin K-dependent clotting factors; target of warfarin; -1639G>A determines dose.

Very Low Density Lipoprotein Receptor

Clinical detailVery low density lipoprotein receptor; apoE-binding endocytic receptor expressed in heart, muscle, and brain; mediates VLDL triglyceride-rich lipoprotein uptake into peripheral tissues.

Wolframin ER Transmembrane Glycoprotein

Clinical detailWolframin; ER transmembrane glycoprotein regulating ER calcium homeostasis and the unfolded protein response; loss-of-function causes Wolfram syndrome (DIDMOAD), a progressive neurodegeneration.