Immunoprecipitation of ALDH5A1 transfected lysate using anti-ALDH5A1 MaxPab rabbit polyclonal antibody and Protein A Magnetic Bead (U0007), and immunoblotted with ALDH5A1 purified MaxPab mouse polyclonal antibody (B01P) (H00007915-B01P).
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