Presku: | AAP46620 |
Size: | 100 ug |
Weight: | 54kDa |
Gene: | 4329 |
Format: | Lyophilized powder |
Target: | ALDH6A1 plays a role in valine and pyrimidine metabolism. ALDH6A1 binds fatty acyl-CoA.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. |
Alternative names: | MGC40271; MMSADHA; MMSDH |