NP_001071.1
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
58,653 Da
NCBI Official Full Name
succinate-semialdehyde dehydrogenase, mitochondrial isoform 2
NCBI Official Synonym Full Names
aldehyde dehydrogenase 5 family, member A1
NCBI Official Synonym Symbols
NCBI Protein Information
succinate-semialdehyde dehydrogenase, mitochondrial; NAD(+)-dependent succinic semialdehyde dehydrogenase; aldehyde dehydrogenase 5 family member A1; mitochondrial succinate semialdehyde dehydrogenase
UniProt Protein Name
Succinate-semialdehyde dehydrogenase, mitochondrial
UniProt Synonym Protein Names
Aldehyde dehydrogenase family 5 member A1; NAD(+)-dependent succinic semialdehyde dehydrogenase
UniProt Synonym Gene Names
UniProt Entry Name
SSDH_HUMAN
NCBI Summary for SSADH
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 Comments for SSADH
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: Oxidoreductase; Mitochondrial; Carbohydrate Metabolism - butanoate; Amino Acid Metabolism - alanine, aspartate and glutamate; EC 1.2.1.24
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; post-embryonic development; protein homotetramerization; synaptic transmission; glutathione metabolic process; galactosylceramide metabolic process; glycerophospholipid metabolic process; gamma-aminobutyric acid catabolic process
Disease: Succinic Semialdehyde Dehydrogenase Deficiency
Research Articles on SSADH
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Products associated with SSADH elisa kit
Pathways associated with SSADH elisa kit
Diseases associated with SSADH elisa kit
Organs/Tissues associated with SSADH elisa kit
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