LDLRs

LDLR, or Low-Density Lipoprotein Receptor, is a crucial cell surface protein responsible for the uptake of low-density lipoprotein (LDL) particles from the bloodstream. These LDL particles, often referred to as "bad cholesterol," carry cholesterol to cells for various physiological functions. The LDLR plays a pivotal role in regulating cholesterol levels in the body by binding to LDL and facilitating its internalization into cells through receptor-mediated endocytosis.

The LDLR gene encodes this transmembrane glycoprotein. Mutations in the LDLR gene can lead to a significant reduction or complete absence of functional LDLRs. This genetic defect results in impaired clearance of LDL from the circulation, causing a marked elevation in blood LDL cholesterol levels. This condition is known as familial hypercholesterolemia (FH), an autosomal dominant disorder. Individuals with FH have a substantially increased risk of premature cardiovascular disease, including heart attacks and strokes, due to the accumulation of cholesterol in arterial walls. The LDLR is a well-studied protein due to its critical role in cholesterol metabolism and its involvement in a common genetic disorder.