靶标：
ALDH6A1
产品别名：
MMSADHA； MMSDH； ALDH6A1； aldehyde dehydrogenase 6 family member A1； aldehyde dehydrogenase 6 family member A1； methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial； malonate-semialdehyde dehydrogenase (acetylating)； mitochondrial acylating methylmalonate-semialdehyde dehydrogenase； testicular tissue protein Li 122；
背景信息：
Methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial (MMSDH) is an enzyme that in humans is encoded by the ALDH6A1 gene. 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.
