MitoProteome Database

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MT000361

UniProt Annotations

Entry Information

Gene Name	aldehyde dehydrogenase 6 family, member A1
Protein Entry
UniProt ID
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q02252-1; Sequence=Displayed; Name=2; IsoId=Q02252-2; Sequence=VSP_055067;
Catalytic Activity	2-methyl-3-oxopropanoate + CoA + H(2)O + NAD(+) = propanoyl-CoA + HCO(3)(-) + NADH.
Catalytic Activity	3-oxopropanoate + CoA + NAD(P)(+) = acetyl-CoA + CO(2) + NAD(P)H.
Disease	Methylmalonate 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.
Function	Plays a role in valine and pyrimidine metabolism. Binds fatty acyl-CoA.
Similarity	Belongs to the aldehyde dehydrogenase family. {ECO:0000305}.
Subcellular Location	Mitochondrion.
Subunit	Homotetramer.