Aldehyde Dehydrogenase 6 Family, Member A1 (ALDH6A1)

ALDH6A1 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.The full-length rat cDNA encodes a 535-amino acid polypeptide, of which the first 32 residues are a mitochondrial entry sequence. The polypeptide sequence encoded by the partial human cDNA is 97.7% identical to the rat protein sequence.