NPC1L1

NPC1L1 (Niemann-Pick C1-Like 1) is a protein that in humans is encoded by the NPC1L1 gene. It is a critical mediator of intestinal cholesterol absorption and serves as the molecular target of ezetimibe, a potent cholesterol absorption inhibitor that is widely used in the treatment of hypercholesterolemia.

Function

The protein encoded by the NPC1L1 gene is a polytopic membrane protein that localizes to the canalicular (apical) surface of enterocytes. It is thought to participate in the uptake of cholesterol by promoting its transport across the intestinal brush border. It acts as a critical mediator of intestinal cholesterol absorption and could potentially serve as a molecular target for treating hypercholesterolemia.

Clinical significance

Mutations in the NPC1L1 gene are associated with a reduced absorption of dietary cholesterol and thus lower plasma cholesterol levels. This has been linked to a decreased risk of coronary heart disease. The drug ezetimibe targets this protein, reducing intestinal cholesterol absorption and helping to lower cholesterol levels in the blood.

See also

• Niemann-Pick disease
• Ezetimibe
• Hypercholesterolemia

External links

• NPC1L1 at the National Center for Biotechnology Information