Metabolic

CFTR Cystic Fibrosis Transmembrane Conductance Regulator on chromosome 7q31.2 encodes an ATP gated chloride and bicarbonate channe...

SLC26A9 on chromosome 1q32.1 encodes a member of the SLC26 family of anion transporters, which move chloride, bicarbonate, and oth...

HEXA on chromosome 15q23 encodes the alpha subunit of beta hexosaminidase A, a lysosomal enzyme that degrades GM2 ganglioside, a l...

PAH on chromosome 12q23.2 encodes phenylalanine hydroxylase, a liver enzyme that converts phenylalanine to tyrosine using tetrahyd...

HFE on chromosome 6p22.2 encodes an MHC class I like protein that associates with beta 2 microglobulin and transferrin receptor 1 ...

MTHFR on chromosome 1p36.22 encodes methylenetetrahydrofolate reductase, which converts 5,10 methylenetetrahydrofolate to 5 methyl...

TTR on chromosome 18q12.1 encodes transthyretin, a protein made mainly by the liver that circulates as a tetramer and transports t...

WRN on chromosome 8p12 encodes Werner syndrome protein, a member of the RecQ family of DNA helicases that also has exonuclease act...

INS on chromosome 11p15.5 encodes preproinsulin, which is processed in pancreatic beta cells into proinsulin and then into insulin...

MT ND1 is a gene in mitochondrial DNA encoding NADH dehydrogenase subunit 1, one of the core subunits of respiratory complex I, wh...

SERPINA1 on chromosome 14q32.13 encodes alpha 1 antitrypsin, a serine protease inhibitor made mainly by the liver that circulates ...

PRSS1 on chromosome 7q34 encodes cationic trypsinogen, the most abundant form of the inactive precursor of trypsin secreted by the...

ATP7B on chromosome 13q14.3 encodes a copper transporting P type ATPase expressed mainly in liver cells, where it delivers copper ...

GAA on chromosome 17q25.3 encodes acid alpha glucosidase, a lysosomal enzyme that breaks down glycogen into glucose. Deficiency ca...

GLA on chromosome Xq22.1 encodes alpha galactosidase A, a lysosomal enzyme that removes terminal galactose from glycosphingolipids...

CYP2D6 on chromosome 22q13.2 encodes a cytochrome P450 enzyme in the liver that metabolizes a large share of commonly used medicin...

HNF1A on chromosome 12q24.31 encodes hepatocyte nuclear factor 1 alpha, a transcription factor expressed in the liver, kidney, int...

GCK on chromosome 7p13 encodes glucokinase, an enzyme that phosphorylates glucose and acts as the glucose sensor of pancreatic bet...

MC4R on chromosome 18q21.32 encodes the melanocortin 4 receptor, a G protein coupled receptor in the hypothalamus that is a key pa...

CYP21A2 on chromosome 6p21.33, within the HLA region, encodes steroid 21 hydroxylase, an adrenal enzyme required to make cortisol ...