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The product of this gene 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.
Gene Name: | methylmalonyl CoA epimerase |
Synonyms: | MCEE, DL-methylmalonyl-CoA racemase, GLOD2, Methylmalonyl CoA epimerase, Glyoxalase domain containing 2 |
Target Sequences: | NM_032601 NP_115990.3 Q96PE7 |
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