The Human (ALDH6A1) Methylmalonate-semialdehyde Dehydrogenase, Acylating, Mitochondrial ELISA Kit measures Methylmalonate-semialdehyde dehydrogenase[acylating],mitochondrial in samples. The plate has been pre-coated with Human ALDH6A1 antibody. ALDH6A1 present in the sample is added and binds to antibodies coated on the wells. And then biotinylated Human ALDH6A1 Antibody is added and binds to ALDH6A1 in the sample. Then Streptavidin-HRP is added and binds to the Biotinylated ALDH6A1 antibody. After incubation unbound Streptavidin-HRP is washed away during a washing step. Substrate solution is then added and color develops in proportion to the amount of Human ALDH6A1. The reaction is terminated by addition of acidic stop solution and absorbance is measured at 450 nm.
BackgroundMethylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial (MMSDH) is an enzyme that in humans is encoded by the ALDH6A1 gene. This protein belongs to the aldehyde dehydrogenases family of proteins. This enzyme plays a role in the valine and pyrimidine catabolic pathways. The product of this gene, a mitochondrial methylmalonate semialdehyde dehydrogenase, catalyzes the irreversible oxidative decarboxylation of malonate and methylmalonate semialdehydes to acetyl- and propionyl-CoA. Methylmalonate semialdehyde dehydrogenase deficiency is characterized by elevated beta-alanine, 3-hydroxypropionic acid, and both isomers of 3-amino and 3-hydroxyisobutyric acids in urine organic acids. Methylmalonate semialdehyde dehydrogenase deficiency is caused by mutations in this gene and the resulting protein. Source: UniProt Consortium (2025)
