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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. Protein function: Plays a role in valine and pyrimidine metabolism. Binds fatty acyl-CoA. [The UniProt Consortium]
Keywords:
Anti-MMSDH, Anti-ALDH6A1, EC=1.2.1.27, EC=1.2.1.18, Anti-Aldehyde dehydrogenase family 6 member A1, Anti-Malonate-semialdehyde dehydrogenase [acylating], Anti-Methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial, ALDH6A1 Polyclonal Antibod
This website uses cookies, which are necessary for the technical operation of the website and are always set. Other cookies, which increase the usability of this website, serve for direct advertising or simplify interaction with other websites and social networks, will only be used with your consent.
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