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MT000026

UniProt Annotations

Entry Information

Gene Name	aldehyde dehydrogenase 2 family (mitochondrial)
Protein Entry	ALDH2_HUMAN
UniProt ID	P05091
Species	Human

Comments

Comment type	Description
Alternative Products	Event=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 Activity	An aldehyde + NAD(+) + H(2)O = a carboxylate + NADH.
Pathway	Alcohol metabolism; ethanol degradation; acetate from ethanol: step 2/2.
Polymorphism	Genetic 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 Caution	Sequence=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};
Similarity	Belongs to the aldehyde dehydrogenase family. {ECO:0000305}.
Subcellular Location	Mitochondrion matrix.
Subunit	Homotetramer.
Web Resource	Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/ALDH2ID250.html";