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