ALDH6A1 Antibody

This gene encodes a member of the aldehyde dehydrogenase protein family. The encoded protein is a mitochondrial methylmalonate semialdehyde dehydrogenase that plays a role in the valine and pyrimidine catabolic pathways. This protein 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. Alternate splicing results in multiple transcript variants.

ALDH6A1, MMSDH, MMSADHA, mitochondrial acylating methylmalonate-semialdehyde dehydrogenase, MGC40271, aldehyde dehydrogenase 6A1, aldehyde dehydrogenase 6 family, member A1