ACAT1

From WikiMD's Wellness Encyclopedia

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[edit | edit source]

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[edit | edit source]

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[edit | edit source]

References[edit | edit source]



Contributors: Prab R. Tumpati, MD