Reactivities: | Human |
Presku: | AAP59587 |
Size: | 100ug |
Weight: | 57kDa |
Gene: | 7915 |
Format: | Lyophilized powder |
Target: | 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. |
Alternative names: | SSADH; SSDH |