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Official Full Name
aldehyde dehydrogenase 6 family, member A1
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.
ALDH6A1; aldehyde dehydrogenase 6 family, member A1; MMSDH; methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial; malonate-semialdehyde dehydrogenase; aldehyde dehydrogenase family 6 member A1; mitochondrial acylating methylmalonate-semial; mitochondrial acylating methylmalonate-semialdehyde dehydrogenase; MMSADHA; MGC40271; cb850; zgc:92082; wu:fb03a04

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