MUT Antibody – Rabbit Polyclonal

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]

MUT: 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.

Protein type: Amino Acid Metabolism - valine, leucine and isoleucine degradation; Carbohydrate Metabolism - propanoate; EC 5.4.99.2; Isomerase; Mitochondrial

Chromosomal Location of Human Ortholog: 6p12.3

Cellular Component: mitochondrial matrix; mitochondrion

Molecular Function: methylmalonyl-CoA mutase activity

Biological Process: cobalamin metabolic process; homocysteine metabolic process; short-chain fatty acid catabolic process

Disease: Methylmalonic Aciduria Due To Methylmalonyl-coa Mutase Deficiency