ALDH5A1 Antibody – Rabbit Polyclonal

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]

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.

Protein type: EC 1.2.1.24; Mitochondrial; Carbohydrate Metabolism - butanoate; Amino Acid Metabolism - alanine, aspartate and glutamate; Oxidoreductase

Chromosomal Location of Human Ortholog: 6p22

Cellular Component: mitochondrion; mitochondrial matrix

Molecular Function: aldehyde dehydrogenase (NAD) activity; protein homodimerization activity; succinate-semialdehyde dehydrogenase activity; succinate-semialdehyde dehydrogenase [NAD(P)+] activity

Biological Process: succinate metabolic process; glutamate metabolic process; central nervous system development; neurotransmitter catabolic process; short-chain fatty acid metabolic process; neurotransmitter secretion; acetate metabolic process; glucose metabolic process; glutamine metabolic process; glucosylceramide metabolic process; protein homotetramerization; post-embryonic development; synaptic transmission; glutathione metabolic process; galactosylceramide metabolic process; glycerophospholipid metabolic process; gamma-aminobutyric acid catabolic process

Disease: Succinic Semialdehyde Dehydrogenase Deficiency