Gene Symbol | MMUT |
Entrez Gene ID | 4594 |
Full Name | methylmalonyl-CoA mutase |
Synonyms | MCM |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Methylmalonic aciduria, mut(0) type, 251000 (3) |