Aldehyde dehydrogenase 2 family

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;

Details

Origin ID

100650;

UMLS CUI

C1412335;

Automatic exact mappings (from CISMeF team)
- Aldehyde Dehydrogenase, Mitochondrial [NCIt concept]
- HMGA2/ALDH2 Fusion Gene [NCIt concept]
- aldehyde dehydrogenase 2 family member [HGNC gene]
Currated CISMeF NLP mapping
- ALDH2 Gene [NCIt concept]
NCIt concept(s)
- ALDH2 Gene [NCIt concept]
- ALDH2 wt Allele [NCIt concept]
- Aldehyde Dehydrogenase, Mitochondrial [NCIt concept]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- ALDH2 Gene [NCIt concept]
- aldehyde dehydrogenase 2 family member [HGNC gene]

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