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]
Function:
Involved in the degradation of several amino acids, odd-chain fatty acids and cholesterol via propionyl-CoA to the tricarboxylic acid cycle. MCM has different functions in other species.
Subcellular Location:
Mitochondrion matrix.
DISEASE:
Defects in MUT are the cause of methylmalonic aciduria type mut (MMAM) [MIM:251000]. MMAM is an often fatal disorder of organic acid metabolism. Common clinical features include lethargy, vomiting, failure to thrive, hypotonia, neurological deficit and early death. Two forms of the disease are distinguished by the presence (mut-) or absence (mut0) of residual enzyme activity. Mut0 patients have more severe neurological manifestations of the disease than do MUT- patients. MMAM is unresponsive to vitamin B12 therapy.
Similarity:
Belongs to the methylmalonyl-CoA mutase family.
Contains 1 B12-binding domain.
SWISS:
P22033
Gene ID:
4594
Database links:
Entrez Gene: 4594 Human
Entrez Gene: 422049 Chicken
Entrez Gene: 17850 Mouse
Entrez Gene: 688517 Rat
Entrez Gene: 569581 Zebrafish
Omim: 609058 Human
SwissProt: P22033 Human
SwissProt: P16332 Mouse
Unigene: 485527 Human
Unigene: 259884 Mouse
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