Alias (According to NCBI)
- SSADH
- SSDH
- NAD(+)-dependent succinic semialdehyde dehydrogenase
- NAD+-dependent succinic semialdehyde dehydrogenase
- aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase)
- mitochondrial succinate semialdehyde dehydrogenase
- Succinate semialdehyde dehydrogenase, mitochondrial precursor (EC
1.2.1.24) (NAD(+)-dependent
succinic semialdehyde dehydrogenase).
Description
(According to SwissProt)
- 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.
- Chromosomal location
(According to NCBI, CGH: progenetix)
- Location: 6p22.2-p22.3
- Orientation: plus strand
- Size: 42239 bp
- 11 exons
- DNA sequence (Human): NC_000006.
CGH (6p22.2-p22.4): Losses (%) -2.2 Gain (%) 10.0
- Size: 1210 amino acids; 57214 Da
- Catalytic activity: Succinate semialdehyde + NAD(+) + H(2)O = succinate + NADH.
Subcellular location:
Protein domains
Pathway: Omega Oxidation
Protein interactions:
- Tissue expression: PubMed Reference
- Human Protein Atlas (HPA): HPA029716
- OMIM : 271980
- PubMed: Early detection Diagnosis Prognosis Therapy