" /> Aldehyde dehydrogenase 2 family - CISMeF





Preferred Label : Aldehyde dehydrogenase 2 family;

Symbol : ALDH2;

CISMeF acronym : ALDH2;

Type : Gene and phenotype, combined;

Alternative titles and symbols : Aldehyde dehydrogenase 2; Aldh, liver mitochondrial; Acetaldehyde dehydrogenase 2;

Included titles and symbols : Sublingual nitroglycerin, susceptibility to poor response to; Aldh2/hmgic fusion gene; Esophageal cancer, alcohol-related, susceptibility to;

Description : Acetaldehyde dehydrogenase (EC 1.2.1.3) is the next enzyme after alcohol dehydrogenase (see 103700) in the major pathway of alcohol metabolism. There are 2 major ALDH isozymes in the liver: cytosolic ALDH1 (ALDH1A1; 100640) and mitochondrial ALDH2.;

Inheritance : Autosomal dominant;

Molecular basis : Susceptibility conferred by mutation in the mitochondrial aldehyde dehydrogenase 2 family gene (ALDH2, 100650.0001);

Neoplasia : Susceptibility to esophageal cancer (in alcohol drinkers with the ALDH2 A allele);

Laboratory abnormalities : Delayed oxidation of acetaldehyde Disulfiram insensitive;

Prefixed ID : 100650;

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09/05/2025


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