ACAT2

ACAT2 (Acetyl-CoA acetyltransferase 2) is an enzyme that in humans is encoded by the ACAT2 gene. This enzyme is primarily located in the mitochondria, and plays a crucial role in lipid metabolism.

Function

ACAT2 is an important enzyme involved in the metabolic pathways of lipid metabolism. It catalyzes the reversible formation of acetoacetyl-CoA from two molecules of acetyl-CoA. This reaction is a key step in the mevalonate pathway, which is responsible for the biosynthesis of cholesterol, steroids, and other isoprenoids.

Clinical significance

Mutations in the ACAT2 gene have been associated with hypercholesterolemia, a condition characterized by high levels of cholesterol in the blood. This can lead to the development of atherosclerosis, a disease in which plaque builds up inside the arteries, and can potentially lead to heart disease and stroke.

See also

• ACAT1
• Acetyl-CoA acetyltransferase
• Mevalonate pathway
• Hypercholesterolemia
• Atherosclerosis

External links

• NCBI Gene
• UniProt