Metabolic

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...

GBA, now officially named GBA1, on chromosome 1q22 encodes glucocerebrosidase, a lysosomal enzyme that breaks down the lipid gluco...

PCSK9 on chromosome 1p32.3 encodes proprotein convertase subtilisin kexin type 9, a secreted protein that binds LDL receptors on l...

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

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

G6PD on chromosome Xq28 encodes glucose 6 phosphate dehydrogenase, the rate limiting enzyme of the pentose phosphate pathway, whic...

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...

RPE65 on chromosome 1p31.3 encodes an isomerohydrolase in the retinal pigment epithelium that converts all trans retinyl esters in...

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

CYP2C19 on chromosome 10q23.33 encodes a liver cytochrome P450 enzyme involved in metabolizing several widely used medicines, incl...

ADA on chromosome 20q13.12 encodes adenosine deaminase, an enzyme of purine metabolism that converts adenosine and deoxyadenosine ...

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...

IDH1 on chromosome 2q34 encodes isocitrate dehydrogenase 1, a cytoplasmic enzyme that converts isocitrate to alpha ketoglutarate. ...

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