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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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: DL-methylmalonyl-CoA racemase; glyoxalase domain containing 2; methylmalonyl CoA epimerase; Methylmalonyl-CoA epimerase, mitochondrial
基因别名: GLOD2; MCEE
UniProt ID: (Human) Q96PE7
Entrez Gene ID: (Human) 84693