Full name: methylmalonyl-CoA mutase

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: MCM; MUT

Summary: This gene encodes the mitochondrial enzyme methylmalonyl Coenzyme A mutase. In humans, the product of this gene is a vitamin B12-dependent enzyme which catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA, while in other species this enzyme may have different functions. Mutations in this gene may lead to various types of methylmalonic aciduria. [provided by RefSeq, Jul 2008]

Expression: Ubiquitous expression in liver (RPKM 48.6), kidney (RPKM 23.2) and 25 other tissues

Gene size: 32894bp

Exon count: 13