重组甲基丙二酰异构酶蛋白

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重组甲基丙二酰异构酶蛋白

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Recombinant MMUT
Recombinant methylmalonyl-CoA mutase protein

基因名：

MMUT

产品别名：

MCM； MUT； MMUT； methylmalonyl-CoA mutase； methylmalonyl-CoA mutase； methylmalonyl-CoA mutase, mitochondrial； methylmalonyl Coenzyme A mutase； methylmalonyl-CoA isomerase； methylmalonyl-CoA mutase c.*192delA； methylmalonyl-CoA mutase c.*51C>G； methylmalonyl-CoA mutase variant c.1495G>A； methylmalonyl-CoA mutase variant c.2011A>G； methylmalonyl-CoA mutase variant c.2150G>T； methylmalonyl-CoA mutase variant c.322C>T； methylmalonyl-CoA mutase variant c.613_615delGAA； methylmalonyl-CoA mutase variant c.636G>A； methylmalonyl-CoA mutase variant c.643G>A； mutant methylmalonyl CoA mutase；甲基丙二酰异构酶；

背景信息：

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]