MMUT : methylmalonyl-CoA mutase
Description
The MMUT (methylmalonyl-CoA mutase) is a protein-coding gene located on chromosome 6.
The MMUT gene provides instructions for making an enzyme called methylmalonyl CoA mutase. This enzyme is active in mitochondria, which are specialized structures inside cells that serve as energy-producing centers. Methylmalonyl CoA mutase is responsible for a particular step in the breakdown of several protein building blocks (amino acids), specifically isoleucine, methionine, threonine, and valine. The enzyme also helps break down certain types of fats (lipids) and cholesterol. First, several chemical reactions convert the amino acids, lipids, or cholesterol to a molecule called methylmalonyl CoA. Then, working with a compound called adenosylcobalamin (AdoCbl), which is a form of vitamin B12, methylmalonyl CoA mutase converts methylmalonyl CoA to a compound called succinyl-CoA. Other enzymes break down succinyl-CoA into molecules that are later used for energy.
The MMUT gene encodes the enzyme methylmalonyl-CoA mutase, which catalyzes the reversible isomerization of methylmalonyl-CoA (MMCoA) to succinyl-CoA. MMCoA is generated from the metabolism of branched-chain amino acids, dietary odd chain fatty acids, and cholesterol. Succinyl-CoA is a key intermediate in the tricarboxylic acid cycle.
MMUT is also known as MCM, MUT.
Associated Diseases
- Methylmalonic aciduria, mut type
- Vitamin B12-unresponsive methylmalonic acidemia type mut0
- Vitamin B12-unresponsive methylmalonic acidemia type mut-
- Methylmalonic acidemia
