| Gene Symbol | MMUT |
| Entrez Gene ID | 4594 |
| Full Name | methylmalonyl-CoA mutase |
| Synonyms | MCM |
| General protein information |
|
| 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) |
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