Immunogen sequence: ANSVKRVSME LGGLAPFIVF DSANVDQAVA GAMASKFRNT GQTCVCSNQF LVQRGIHDAF VKAFAEAMKK NLRVGNGFEE GTTQGPLINE KAVEKVEKQV
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 . 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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: Aldehyde dehydrogenase family 5 member A1; mitochondrial succinate semialdehyde dehydrogenase; NAD(+)-dependent succinic semialdehyde dehydrogenase; SSADH; Succinate-semialdehyde dehydrogenase, mitochondrial
Gene Aliases: ALDH5A1; SSADH; SSDH
UniProt ID: (Human) P51649
Entrez Gene ID: (Human) 7915