LDLR gene

The LDLR gene provides instructions for making a protein called the low-density lipoprotein receptor. This receptor is found on the surface of certain cells, especially in the liver, and it helps remove "bad" cholesterol (LDL cholesterol) from the blood by binding to it and carrying it into the cell for disposal. Proper functioning of the LDLR gene ensures healthy cholesterol levels and reduces the risk of heart disease. Mutations or changes in this gene can impair the receptor, leading to higher LDL cholesterol levels in the blood, which increases the risk of cardiovascular problems.