MMUT

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.

Full Name

methylmalonyl-CoA mutase

Alternative Names

MCM; MUT

Function

Catalyzes the reversible isomerization of methylmalonyl-CoA (MMCoA) (generated from branched-chain amino acid metabolism and degradation of dietary odd chain fatty acids and cholesterol) to succinyl-CoA (3-carboxypropionyl-CoA), a key intermediate of the tricarboxylic acid cycle.

Biological Process

Homocysteine metabolic process
Positive regulation of GTPase activity
Post-embryonic development
Propionate metabolic process, methylmalonyl pathway
Succinyl-CoA biosynthetic process

Cellular Location

Mitochondrion matrix
Mitochondrion
Cytoplasm

Involvement in disease

Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MAMM):
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. MAMM is unresponsive to vitamin B12 therapy.