Official Full Name
methylmalonyl CoA epimerase
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.
MCEE; methylmalonyl CoA epimerase; methylmalonyl-CoA epimerase, mitochondrial; GLOD2; glyoxalase domain containing 2; mitochondrial; DL methylmalonyl CoA racemase; DL-methylmalonyl-CoA racemase; EC 184.108.40.206; MCEE_HUMAN; METHYLMALONYL CoA RACEMASE; Methylmalonyl-CoA epimerase; zgc:112343