Preferred Label : ALDH2 NP_000681.2:p.E504K;
NCIt synonyms : ALDH2*2 Protein Variant; ALDH Class 2 Glu504Lys; ALDHI Glu504Lys; ALDH2 E504K; ALDH2 p.E504K; Aldehyde Dehydrogenase, Mitochondrial E504K; ALDH2 E487K; ALDH-E2 E504K; NP_000681.2:p.Glu504Lys; ALDH2*2 Isozyme; ALDH2 NP_000681.2:p.Glu504Lys; ALDH Class 2 E504K; ALDHI E504K; NP_000681.2:p.E504K; ALDH2 Glu504Lys; ALDH2 p.Glu504Lys; ALDH2 Glu487Lys; ALDH-E2 Glu504Lys;
NCIt definition : A change in the amino acid residue at position 504 in aldehyde dehydrogenase, mitochondrial
protein where glutamic acid has been replaced by lysine.;
NCIt note : The E504K substitution in the aldehyde dehydrogenase, mitochondrial protein (ALDH2)
was initially identified as E487K because the residue numbering didn't include the
17 amino acid mitochondrial leader peptide. ALDH2 E504K is enzymatically inactive
but immunologically cross-reactive. This substitution also appears to exert a dominant
negative effect on ALDH2 activity by increasing turnover of the enzyme. Upon expression
of this variant, the decreased 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 E504K 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 : CL1905558;
PubMed : 28253921;
Origin ID : C192164;
UMLS CUI : C5784951;
Semantic type(s)
- concept_is_in_subset
- gene_product_variant_of_gene_product
- molecular_abnormality_involves_gene
