ACAA1

ACAA1 (Acetyl-CoA Acyltransferase 1) is a gene that encodes a protein in humans. This protein is involved in the final step of the beta-oxidation pathway, an important process for energy production in cells.

Function

The ACAA1 gene provides instructions for making an enzyme called acetyl-CoA acyltransferase 1. This enzyme is found in the mitochondria, the energy-producing centers in cells. It plays a crucial role in breaking down fatty acids to produce energy. Specifically, it is involved in the last step of a multi-step process called beta-oxidation.

During beta-oxidation, fatty acids are broken down to produce a molecule called acetyl CoA. Acetyl CoA can then enter the citric acid cycle (also known as the Krebs cycle), where it is used to produce energy for the cell.

Clinical significance

Mutations in the ACAA1 gene can lead to a deficiency in the acetyl-CoA acyltransferase 1 enzyme. This deficiency can disrupt the breakdown of fatty acids, leading to a buildup of these molecules in cells. This can cause a variety of health problems, including neurological disorders and cardiomyopathy, a disease of the heart muscle.

See also

• Beta oxidation
• Mitochondria
• Fatty acid metabolism