Methylmalonyl Coenzyme A Epimerase (MCEE)

GLOD2; Glyoxalase Domain Containing 2; DL-methylmalonyl-CoA racemase

SPN	R330
HGNC	16732
MGI	1920974
PubMed	13934211
RGD	1309966
UniProt	Q53TP1
Wiki	MCEE

Methylmalonyl CoA Epimerase 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.

Bikker et al. (2006) reported a 16-year-old female patient with persistent moderate methylmalonic aciduria. In vitro biochemical findings that comprised a decreased propionate incorporation into macromolecules in cultured fibroblasts and a fully normal activity of methylmalonyl-CoA mutase in the same cells were fully explained by deficiency of methylmalonyl-CoA epimerase.

Reference

"Identification of the human methylmalonyl-CoA racemase gene based on the analysis of prokaryotic gene arrangements. Implications for decoding the human genome."
J. Biol. Chem. 276:37194-37198(2001) [PubMed] [Europe PMC] [Abstract]

"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria."
Hum. Mutat. 27:640-643(2006) [PubMed] [Europe PMC] [Abstract]

"An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]

"Crystal structure of human methylmalonyl-CoA epimerase, MCEE."
Submitted (APR-2011) to the PDB data bank