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MGP003428

UniProt Annotations

Entry Information
Gene Namealdehyde dehydrogenase 5 family, member A1
Protein EntrySSDH_HUMAN
UniProt IDP51649
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P51649-1; Sequence=Displayed; Name=2; IsoId=P51649-2; Sequence=VSP_045231;
Catalytic ActivitySuccinate semialdehyde + NAD(+) + H(2)O = succinate + NADH.
DiseaseSuccinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]: A rare inborn error of 4-aminobutyric acid (GABA) metabolism, which leads to accumulation of 4-hydroxybutyric acid in physiologic fluids of patients. The disease is clinically characterized by developmental delay, hypotonia, mental retardation, ataxia, seizures, hyperkinetic behavior, aggression, and sleep disturbances. {ECO:0000269|PubMed:11243727, ECO:0000269|PubMed:11901270, ECO:0000269|PubMed:14635103}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Enzyme RegulationRedox-regulated. Inhibited under oxydizing conditions. Inhibited by hydrogen peroxide H(2)O(2). {ECO:0000269|PubMed:19300440}.
FunctionCatalyzes one step in the degradation of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA). {ECO:0000269|PubMed:19300440}.
PathwayAmino-acid degradation; 4-aminobutanoate degradation.
SimilarityBelongs to the aldehyde dehydrogenase family. {ECO:0000305}.
Subcellular LocationMitochondrion.
SubunitHomotetramer. {ECO:0000269|PubMed:19300440, ECO:0000269|PubMed:9059628}.
Tissue SpecificityBrain, pancreas, heart, liver, skeletal muscle and kidney. Lower in placenta.
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