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.
Immunogen Information
Immunogen
Synthetic peptide of human ALDH5A1
Swissprot
P51649
Synonyms
Aldedehyde dehydrogenase 5 familyAldehyde dehydrogenase 5 family member A1Aldehyde dehydrogenase 5A1Aldehyde dehydrogenase family 5 member A1ALDH5A 1Aldh5a1mitochondrialMitochondrial succinate semialdehyde dehydrogenaseNAD(+) dependent succinic se
Gene Accession
NP_001071
Applications
Reactivity
Human,Mouse,Rat
Tested Applications
IHC,ELISA
Conjugation
Unconjugated
Dilution
IHC 1:50-1:200
Concentration
0.4 mg/mL
Storage Buffer
PBS with 0.05% sodium azide and 50% glycerol, PH7.4