NPC1L1

Description

The NPC1L1 gene provides instructions for making a protein called Niemann-Pick C1-like 1 protein. This protein plays a crucial role in the absorption of cholesterol from the gut. It acts as a transporter, moving cholesterol from the intestinal lumen into the bloodstream. By regulating cholesterol absorption, NPC1L1 is essential for maintaining proper cholesterol levels in the body. This gene is vital for the synthesis of various steroid hormones, including estrogen, testosterone, and cortisol.

Associated Diseases

• Familial Hypercholesterolemia (FH): Mutations in NPC1L1 can cause a rare form of FH, leading to high levels of LDL cholesterol.
• Sitosterolemia: A genetic disorder characterized by high levels of plant sterols in the blood, often caused by mutations in NPC1L1.

Did you know?

The NPC1L1 gene is a target for several cholesterol-lowering drugs, including ezetimibe, which is used to reduce cholesterol absorption in the gut.