ACAT1

ACAT1 (Acetyl-CoA acetyltransferase 1) is an enzyme that in humans is encoded by the ACAT1 gene. This enzyme is primarily located in mitochondria, and plays a crucial role in ketone body metabolism.

Function

ACAT1 is a thiolase enzyme that catalyzes the reversible formation of acetoacetyl-CoA from two molecules of acetyl-CoA. This reaction is a key step in the ketogenesis pathway, which generates ketone bodies for use as an energy source during periods of fasting or starvation.

Clinical significance

Mutations in the ACAT1 gene have been associated with a rare genetic disorder known as beta-ketothiolase deficiency. This condition is characterized by an inability to effectively break down the amino acids isoleucine and methionine, leading to a buildup of harmful substances in the body. Symptoms can include metabolic acidosis, ketosis, and hypoglycemia, and can be life-threatening if not treated promptly.

See also

• ACAT2
• Ketone bodies
• Beta-ketothiolase deficiency