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.
Aliases: MMSDH; MMSADHA
Entrez GeneID: 4329
Swissprot : Q02252
WB Predicted band size: 57.8kDa
Host/Isotype : Mouse IgG1
Species Reactivity : Human
Immunogen : Purified recombinant fragment of human ALDH6A1 (AA: 1-195) expressed in E. Coli.
