MUT methylmalonyl CoA mutase [Homo sapiens (human)]
| Gene Symbol | MUT |
| Entrez Gene ID | 4594 |
| Full Name | methylmalonyl CoA mutase |
| Synonyms | MCM |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
6 6p12.3 |
| 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]. |
| Disorder | MIM: 609058 Methylmalonic aciduria, mut(0) type, 251000 (3) |
| mRNA | NM_000255, 296010795 |
| Protein | NP_000246, 156105689 |
| Product | methylmalonyl-CoA mutase, mitochondrial precursor |
| RefSeq Status | REVIEWED |
| hsa00280 | Valine, leucine and isoleucine degradation |
| hsa00630 | Glyoxylate and dicarboxylate metabolism |
| hsa01100 | Metabolic pathways |
| hsa00640 | Propanoate metabolism |
Reactome
| REACT_22258 | Metabolism of lipids and lipoproteins |
| REACT_1473 | Mitochondrial Fatty Acid Beta-Oxidation |
| REACT_993 | Propionyl-CoA catabolism |
| REACT_22279 | Fatty acid, triacylglycerol, and ketone body metabolism |
| Homo sapiens (human) | MUT | NP_000246.2 |
| Pan troglodytes (chimpanzee) | MUT | XP_001146810.1 |
| Canis lupus familiaris (dog) | MUT | XP_532164.2 |
| Bos taurus (cattle) | MUT | NP_776364.2 |
| Mus musculus (house mouse) | Mut | NP_032676.1 |
| Rattus norvegicus (Norway rat) | Mut | XP_001067239.1 |
| Rattus norvegicus (Norway rat) | RGD1564912_predicted | XP_236965.3 |
| Gallus gallus (chicken) | MUT | XP_420055.1 |
| Danio rerio (zebrafish) | mut | NP_001092696.1 |
| Caenorhabditis elegans | mmcm-1 | NP_497786.2 |
| ID | Name | Evidence |
| GO:0006635 | fatty acid beta-oxidation | TAS |
| GO:0009791 | post-embryonic development | IEA |
| GO:0044255 | cellular lipid metabolic process | TAS |
Component
| ID | Name | Evidence |
| GO:0005739 | mitochondrion | IEA |
| GO:0005759 | mitochondrial matrix | TAS |
Function
| ID | Name | Evidence |
| GO:0004494 | methylmalonyl-CoA mutase activity | TAS |
| GO:0031419 | cobalamin binding | IEA |
| GO:0046872 | metal ion binding | IEA |
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