MGP Database

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MGP001949

UniProt Annotations

Entry Information
Gene Namealdehyde dehydrogenase 6 family, member A1
Protein Entry
UniProt ID
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q02252-1; Sequence=Displayed; Name=2; IsoId=Q02252-2; Sequence=VSP_055067;
Catalytic Activity2-methyl-3-oxopropanoate + CoA + H(2)O + NAD(+) = propanoyl-CoA + HCO(3)(-) + NADH.
Catalytic Activity3-oxopropanoate + CoA + NAD(P)(+) = acetyl-CoA + CO(2) + NAD(P)H.
DiseaseMethylmalonate semialdehyde dehydrogenase deficiency (MMSDHD) [MIM:614105]: A metabolic disorder characterized by elevated beta-alanine, 3-hydroxypropionic acid, and both isomers of 3-amino and 3-hydroxyisobutyric acids in urine organic acids. {ECO:0000269|PubMed:10947204}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionPlays a role in valine and pyrimidine metabolism. Binds fatty acyl-CoA.
SimilarityBelongs to the aldehyde dehydrogenase family. {ECO:0000305}.
Subcellular LocationMitochondrion.
SubunitHomotetramer.
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