MUT Anticuerpo(24): sc-136541

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MUT (methylmalonyl Coenzyme A mutase), also known as MCM, is a 750 amino acid mitochondrial matrix protein that exists as a homodimer and belongs to the methylmalonyl-CoA mutase family. Induced by adenosylcobalamin (also known as coenzyme B12 or vitamin B12), MUT participates in the degradation of various amino acids, odd-chain fatty acids and cholesterol via propionyl-CoA (PCC) during the tricarboxylic acid cycle. Mutations in the gene encoding MUT, which is located on human chromsome 6, are the cause of methylmalonic aciduria type mut (MMAM), an often fatal disorder of organic acid metabolism that is characterized by lethargy, vomiting, failure to thrive, hypotonia, neurological deficit and early death. Two forms of MMAM exists: mut(o), which there is no detectable enzymatic activity and mut(-), which there is residual cobalamin-dependent activity.