UniProt Protein Function: | ALDH5A1: Catalyzes one step in the degradation of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA). Defects in ALDH5A1 are the cause of succinate semialdehyde dehydrogenase deficiency (SSADH deficiency). SSADH deficiency is a rare inborn error in the metabolism of 4-aminobutyric acid (GABA) which leads to accumulation of 4-hydroxybutyric acid in physiologic fluids of patients. The disease is characterized by severe ataxia and by mildly retarded psychomotor development. Belongs to the aldehyde dehydrogenase family. |
UniProt Protein Details: | Protein type:EC 1.2.1.24; Oxidoreductase; Mitochondrial; Carbohydrate Metabolism - butanoate; Amino Acid Metabolism - alanine, aspartate and glutamate Chromosomal Location of Human Ortholog: 6p22 Cellular Component: mitochondrial matrix; mitochondrion Molecular Function:aldehyde dehydrogenase (NAD) activity; protein homodimerization activity; succinate-semialdehyde dehydrogenase [NAD(P)+] activity; succinate-semialdehyde dehydrogenase activity Biological Process: acetate metabolic process; central nervous system development; galactosylceramide metabolic process; gamma-aminobutyric acid catabolic process; glucose metabolic process; glutamate metabolic process; glutamine metabolic process; glutathione metabolic process; glycerophospholipid metabolic process; neurotransmitter catabolic process; protein homotetramerization; short-chain fatty acid metabolic process; succinate metabolic process Disease: Succinic Semialdehyde Dehydrogenase Deficiency |
NCBI Summary: | This protein belongs to the aldehyde dehydrogenase family of proteins. This gene encodes a mitochondrial NAD(+)-dependent succinic semialdehyde dehydrogenase. A deficiency of this enzyme, known as 4-hydroxybutyricaciduria, is a rare inborn error in the metabolism of the neurotransmitter 4-aminobutyric acid (GABA). In response to the defect, physiologic fluids from patients accumulate GHB, a compound with numerous neuromodulatory properties. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] |
UniProt Code: | P51649 |
NCBI GenInfo Identifier: | 7531278 |
NCBI Gene ID: | 7915 |
NCBI Accession: | P51649.2 |
UniProt Secondary Accession: | P51649,Q546H9, Q8N3W6, B2RD26, G5E949, |
UniProt Related Accession: | P51649 |
Molecular Weight: | 58,653 Da |
NCBI Full Name: | Succinate-semialdehyde dehydrogenase, mitochondrial |
NCBI Synonym Full Names: | aldehyde dehydrogenase 5 family member A1 |
NCBI Official Symbol: | ALDH5A1 |
NCBI Official Synonym Symbols: | SSDH; SSADH |
NCBI Protein Information: | succinate-semialdehyde dehydrogenase, mitochondrial |
UniProt Protein Name: | Succinate-semialdehyde dehydrogenase, mitochondrial |
UniProt Synonym Protein Names: | Aldehyde dehydrogenase family 5 member A1; NAD(+)-dependent succinic semialdehyde dehydrogenase |
UniProt Gene Name: | ALDH5A1 |
UniProt Entry Name: | SSDH_HUMAN |