How Does the LDL Receptor Gene Affect Cholesterol Levels?
The LDL receptor binds to LDL particles, facilitating their uptake and degradation in the liver. This process is critical for clearing excess cholesterol from the bloodstream. Mutations or polymorphisms in the LDL receptor gene can lead to reduced function or expression of the receptor, resulting in elevated plasma LDL cholesterol levels. This condition, known as familial hypercholesterolemia, is a significant risk factor for atherosclerosis and coronary artery disease.