MCCC1 gene

methylcrotonoyl-CoA carboxylase 1

The MCCC1 gene provides instructions for making one part (the alpha subunit) of an enzyme called 3-methylcrotonoyl-CoA carboxylase or 3-MCC. Alpha subunits join with smaller beta subunits made from the MCCC2 gene; six of these pairings together form a functioning enzyme. The alpha subunit also includes a region for binding to the B vitamin biotin, which is required for the enzyme's function.

The 3-MCC enzyme is found in mitochondria, which are the energy-producing centers inside cells. This enzyme plays a critical role in breaking down proteins obtained from the diet. Specifically, it is responsible for the fourth step in the breakdown of leucine, an amino acid that is a building block of many proteins. This step converts a molecule called 3-methylcrotonyl-CoA to a molecule called 3-methylglutaconyl-CoA. Additional chemical reactions convert 3-methylglutaconyl-CoA into molecules that are later used for energy.

At least 30 mutations in the MCCC1 gene have been identified in people with 3-methylcrotonyl-CoA carboxylase deficiency (also known as 3-MCC deficiency). Most of these mutations change single amino acids in 3-MCC, but a few mutations lead to the production of an abnormally short version of the enzyme. Mutations in the MCCC1 gene severely reduce or eliminate the activity of 3-MCC. As a result, leucine cannot be broken down properly, and byproducts of leucine processing build up to toxic levels in the body. These toxic substances can damage the brain, causing the characteristic signs and symptoms of 3-MCC deficiency.

Cytogenetic Location: 3q27.1, which is the long (q) arm of chromosome 3 at position 27.1

Molecular Location: base pairs 183,015,218 to 183,099,587 on chromosome 3 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 3q27.1, which is the long (q) arm of chromosome 3 at position 27.1
  • 3-methylcrotonyl-CoA carboxylase 1
  • 3-methylcrotonyl-CoA carboxylase biotin-containing subunit
  • MCCA
  • MCCase subunit alpha
  • methylcrotonoyl-CoA carboxylase 1 (alpha)