SCARB2 : scavenger receptor class B member 2

Description

The SCARB2 gene, also known as the ‘scavenger receptor class B type II‘ gene, plays a crucial role in cholesterol metabolism. It encodes a protein that acts as a receptor for high-density lipoprotein (HDL), the ‘good‘ cholesterol. This receptor facilitates the uptake of cholesterol from HDL into cells, helping to regulate cholesterol levels in the body. SCARB2 is particularly important in the liver, where it contributes to the removal of excess cholesterol from the bloodstream. Mutations in this gene can disrupt this process, leading to a buildup of cholesterol and an increased risk of cardiovascular disease.

Associated Diseases

• Familial HDL deficiency (Tangier disease)
• Atherosclerosis
• Cardiovascular disease
• Hepatic steatosis (fatty liver disease)

Did you know?

Tangier disease, a rare genetic disorder caused by mutations in SCARB2, is characterized by extremely low HDL levels and an accumulation of cholesterol esters in the tonsils, giving them a distinctive orange color.