Preferred Label : ALDH2 NM_000690.4:c.1510G A;
NCIt synonyms : ALDM c.1510G A; ALDH2*2 Allele; Aldehyde Dehydrogenase 2 Family Member c.1510G A; ALDHI c.1510G A; ALDH2 c.1510G A; NM_000690.4:c.1510G A; ALDH-E2 c.1510G A; ALDH2*2;
NCIt definition : A nucleotide substitution at position 1510 of the coding sequence of the ALDH2 gene
where guanine has been mutated to adenine.;
NCIt note : ALDH2 c.1510G A (also called the ALDH2*2 allele) encodes an inactive form of the enzyme
that also exerts a dominant negative effect by increasing turnover of the protein.
Upon expression of this variant, the drastic decrease of ALDH2 activity in the liver
causes accumulation of acetaldehyde in the circulation, even after a moderate amount
of alcohol intake, and is a factor in both acute alcohol intoxication and greater
susceptibility to some types of cancer. ALDH2*2 expression is essentially absent among
Europeans, but is highly prevalent among East Asians, where it causes cutaneous flushing
following alcohol consumption. (EntrezGene, OMIM, J Biomed Sci. 2017; 24:19.);
NCI Metathesaurus CUI : CL1905557;
SNP ID : rs671;
PubMed : 28253921;
Origin ID : C192163;
UMLS CUI : C5784950;
Semantic type(s)
- concept_is_in_subset
- molecular_abnormality_involves_gene
