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MT000640

UniProt Annotations

Entry Information

Gene Name	aldehyde dehydrogenase 5 family, member A1
Protein Entry	SSDH_HUMAN
UniProt ID	P51649
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P51649-1; Sequence=Displayed; Name=2; IsoId=P51649-2; Sequence=VSP_045231;
Catalytic Activity	Succinate semialdehyde + NAD(+) + H(2)O = succinate + NADH.
Disease	Succinic 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 Regulation	Redox-regulated. Inhibited under oxydizing conditions. Inhibited by hydrogen peroxide H(2)O(2). {ECO:0000269\|PubMed:19300440}.
Function	Catalyzes one step in the degradation of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA). {ECO:0000269\|PubMed:19300440}.
Pathway	Amino-acid degradation; 4-aminobutanoate degradation.
Similarity	Belongs to the aldehyde dehydrogenase family. {ECO:0000305}.
Subcellular Location	Mitochondrion.
Subunit	Homotetramer. {ECO:0000269\|PubMed:19300440, ECO:0000269\|PubMed:9059628}.
Tissue Specificity	Brain, pancreas, heart, liver, skeletal muscle and kidney. Lower in placenta.