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Official Full Name
methylmalonyl CoA mutase
Background
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.
Synonyms
MUT; methylmalonyl CoA mutase; methylmalonyl Coenzyme A mutase; methylmalonyl-CoA mutase, mitochondrial; mitochondrial; MCM; Methylmalonyl CoA isomerase; Methylmalonyl CoA mutase mitochondrial; Methylmalonyl-CoA isomerase; Methylmalonyl-CoA mutase; MUTA_HUMAN

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