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. Note: This description may include information from UniProtKB.
Protein type: Amino Acid Metabolism - alanine, aspartate and glutamate; Carbohydrate Metabolism - butanoate; EC 1.2.1.24; Mitochondrial; Oxidoreductase
Chromosomal Location of Human Ortholog: 6p22.3
Cellular Component:  mitochondrial matrix; mitochondrion
Molecular Function:  protein homodimerization activity; succinate-semialdehyde dehydrogenase (NAD+) activity
Biological Process:  acetate metabolic process; central nervous system development; galactosylceramide metabolic process; gamma-aminobutyric acid catabolic process; glucose metabolic process; glucosylceramide metabolic process; glutamate metabolic process; glutamine metabolic process; glutathione metabolic process; glycerophospholipid metabolic process; neurotransmitter catabolic process; post-embryonic development; protein homotetramerization; respiratory electron transport chain; short-chain fatty acid metabolic process; succinate metabolic process
Disease: Succinic Semialdehyde Dehydrogenase Deficiency
Reference #:  P51649 (UniProtKB)
Alt. Names/Synonyms: aldehyde dehydrogenase 5 family, member A1; Aldehyde dehydrogenase family 5 member A1; ALDH5A1; mitochondrial succinate semialdehyde dehydrogenase; NAD(+)-dependent succinic semialdehyde dehydrogenase; SSADH; SSDH; Succinate-semialdehyde dehydrogenase, mitochondrial
Gene Symbols: ALDH5A1
Molecular weight: 57,215 Da
Basal Isoelectric point: 8.62  Predict pI for various phosphorylation states
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ALDH5A1

Protein Structure Not Found.


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