MGP Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins
MGP000117

UniProt Annotations

Entry Information
Gene Namealdehyde dehydrogenase 2 family (mitochondrial)
Protein EntryALDH2_HUMAN
UniProt IDP05091
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P05091-1; Sequence=Displayed; Name=2; IsoId=P05091-2; Sequence=VSP_046715; Note=No experimental confirmation available.;
Catalytic ActivityAn aldehyde + NAD(+) + H(2)O = a carboxylate + NADH.
PathwayAlcohol metabolism; ethanol degradation; acetate from ethanol: step 2/2.
PolymorphismGenetic variation in ALDH2 is responsible for individual differences in responses to drinking alcohol [MIM:610251]. Allele ALDH2*2 is associated with a very high incidence of acute alcohol intoxication in Orientals and South American Indians, as compared to Caucasians.
Sequence CautionSequence=AAA62825.1; Type=Frameshift; Positions=424, 444, 448, 461; Evidence={ECO:0000305}; Sequence=CAA68290.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305}; Sequence=CAA68290.1; Type=Miscellaneous discrepancy; Evidence={ECO:0000305};
SimilarityBelongs to the aldehyde dehydrogenase family. {ECO:0000305}.
Subcellular LocationMitochondrion matrix.
SubunitHomotetramer.
Web ResourceName=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/ALDH2ID250.html";
  logo