LDLR

The LDLR gene, vital for cholesterol metabolism, influences susceptibility to familial hypercholesterolemia and cardiovascular disease.

Associated Diseases

Familial Hypercholesterolemia (FH), LDL cholesterol level QTL2

Did you know

The LDLR gene, short for Low-Density Lipoprotein Receptor gene, is crucial for regulating cholesterol levels in the body. It encodes a protein that helps remove LDL (low-density lipoprotein) cholesterol from the bloodstream. Mutations in the LDLR gene can lead to familial hypercholesterolemia, a condition characterized by high levels of LDL cholesterol, increasing the risk of cardiovascular disease. Understanding the LDLR gene‘s function is essential for diagnosing and managing familial hypercholesterolemia and preventing cardiovascular complications. Additionally, research on the LDLR gene provides insights into cholesterol metabolism and the development of potential treatments for related disorders.