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MCEE catalyzes the interconversion of D- and L-methylmalonyl-CoA during the degradation of branched chain amino acids. odd chain-length fatty acids, and other metabolites. Mutations in this gene result in methylmalonyl-CoA epimerase deficiency, which is presented as mild to moderate methylmalonic aciduria.
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Protein Aliases: DL-methylmalonyl-CoA racemase; glyoxalase domain containing 2; methylmalonyl CoA epimerase; Methylmalonyl-CoA epimerase, mitochondrial
Gene Aliases: GLOD2; MCEE
UniProt ID: (Human) Q96PE7
Entrez Gene ID: (Human) 84693
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