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