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. Defects in MUT are the cause of methylmalonic aciduria type mut (MMAM). 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. Belongs to the methylmalonyl-CoA mutase family. Note: This description may include information from UniProtKB.
Protein type: EC 126.96.36.199; Isomerase; Mitochondrial; Amino Acid Metabolism - valine, leucine and isoleucine degradation; Carbohydrate Metabolism - propanoate
SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.