MMUT
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.
Involvement in disease
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
MMAM
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the methylmalonyl-CoA mutase family.
Cellular localization
- Mitochondrion matrix
- Mitochondrion
- Cytoplasm
Alternative names
MUT, MMUT, MCM, Methylmalonyl-CoA isomerase