The ACAT1 gene provides instructions for making an enzyme that is found in the energy-producing centers within cells (mitochondria). This enzyme plays an essential role in breaking down proteins and fats from the diet. Specifically, it helps process isoleucine, an amino acid that is a building block of many proteins. This enzyme is also involved in processing ketones, which are molecules that are produced when fats are broken down in the body.
During the breakdown of proteins, the ACAT1 enzyme is responsible for a step in processing isoleucine. It converts a molecule called 2-methyl-acetoacetyl-CoA into two smaller molecules, propionyl-CoA and acetyl-CoA, that can be used to produce energy.
The ACAT1 enzyme carries out the last step in ketone breakdown (ketolysis) during the processing of fats. The enzyme converts a molecule called acetoacetyl-CoA into two molecules of acetyl-CoA, which can be used to produce energy. In the liver, the enzyme also carries out this chemical reaction in reverse, which is a step in building new ketones (ketogenesis).
Other Names
ACAT; acetoacetyl Coenzyme A thiolase; acetyl-Coenzyme A acetyltransferase 1; acetyl-Coenzyme A acetyltransferase 1 (acetoacetyl Coenzyme A thiolase); MAT; methylacetoacetyl-Coenzyme A thiolase; T2; THIL; THIL_HUMAN
Related Genetics Topics
Identifiers
- NCBI Gene: 38
- OMIM: 607809
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
