Defects in ALDH5A1 are the cause of succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]. SSADH deficiency is a rare inborn error in the metabolism of 4-aminobutyric acid (GABA) which leads to accumulation of 4-hydroxybutyric acid in physiologic fluids of patients. The disease is characterized by severe ataxia and by mildly retarded psychomotor development.
ab106823 (5µg/ml) shows staining of ALDH5A1 in paraffin embedded Human Liver following steamed antigen retrieval with citrate buffer pH 6 and AP-staining. This shows heavy textured cystoplasm staining in hepatocytes, consistent with mitochondia.
Western blot - ALDH5A1 antibody (ab106823)
Anti-ALDH5A1 antibody (ab106823) at 0.5 µg/ml + Human Liver lysate at 35 µg Developed using the ECL technique