Description
Product Characteristics: ALDH6A1, aldehyde dehydrogenase 6 family, member A1, MGC40271, MMSADHA, MMSDH, aldehyde dehydrogenase 6A1, mitochondrial acylating methylmalonate-semialdehyde dehydrogenase
Target Information: 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. [provided by RefSeq, Jul 2008]