MMSADHA antibody, MMSDH antibody, Mmsdh antibody, cb850 antibody, wu:fb03a04 antibody, zgc:92082 antibody, 1110038I05Rik antibody, AI314632 antibody, aldehyde dehydrogenase 6 family member A1 antibody, aldehyde dehydrogenase 6 family, member A1 antibody, aldehyde dehydrogenase 6 family member A1 L homeolog antibody, methylmalonic acid semialdehyde dehydrogenase antibody, methylmalonate-semialdehyde dehydrogenase (CoA acylating) antibody, aldehyde dehydrogenase family 6, subfamily A1 antibody, ALDH6A1 antibody, Aldh6a1 antibody, aldh6a1.L antibody, CCNA_02357 antibody, aldh6a1 antibody, VAA_RS07845 antibody
背景
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.