Gene Symbol | MCEE |
Entrez Gene ID | 84693 |
Full Name | methylmalonyl-CoA epimerase |
Synonyms | GLOD2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Methylmalonyl-CoA epimerase deficiency, 251120 (3) |