Methylmalonyl-CoA mutase

Methylmalonyl-CoA mutase (EC 5.4.99.2, MCM), mitochondrial, is a protein that in humans is encoded by the MUT gene. This vitamin B12-dependent enzyme catalyzes the isomerization of methylmalonate semialdehyde (MMlSA) to a common compound - methylmalony l-coA. Mutations in MUT may lead to various types of methyl malonic aciduria. The product of the enzyme is a key molecule of the tricarboxylic acid cycle. A deficiency of this enzyme is responsible for an inherited disorder of metabolism, methylmalonic acidemia (MMA), which is one of the causes of heart failure and kidney failure. The MUT Gene lies on the chromosome location of 6p12.3 and consists of 13 exons, spanning over 35kb. It can be categorized as either MUT0 (demonstrates no activity in presence of excess AdoCbl), or MUT1 (Demonstrates very low activity in the presence of AdoBl).