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].
Nguyen, Nguyen, Zhang, Devireddy, Zhou, Karydas, Xu, Miller, Rigo, Ferguson, Huang, Walther, Farese: "Murine knockin model for progranulin-deficient frontotemporal dementia with nonsense-mediated mRNA decay." in: Proceedings of the National Academy of Sciences of the United States of America, Vol. 115, Issue 12, pp. E2849-E2858, (2018) (PubMed).
Aliases for MUT 抗体
methylmalonyl-CoA mutase (MUT) 抗体 methylmalonyl CoA mutase (mut) 抗体 methylmalonyl-CoA mutase (mut) 抗体 methylmalonyl CoA mutase (Mut) 抗体 methylmalonyl-Coenzyme A mutase (Mut) 抗体 D230010K02Rik 抗体 MCM 抗体 Mcm 抗体