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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.
methylmalonyl Coenzyme A mutase
, methylmalonyl-CoA mutase, mitochondrial
, methylmalonyl CoA mutase
, methylmalonyl-CoA isomerase
, methylmalonyl-Coenzyme A mutase