Some individuals have defective genes for LDL receptor receptors rendering them nonfunctional. Individuals with these mutations typically have

People who have defective genes for LDL receptors often have familial hypercholesterolemia. This is a genetic disorder that is caused in chromosome 19. It makes the body unable to remove lipoprotein that is low density, or LDL, which is type of protein that creates cholesterol in the blood. It will result in high amounts of LDL in the blood.

Individuals with these mutations typically have familial hypercholesterolemia.

These genes provide information for the formation of the low-density lipoprotein receptor, a receptor that binds to low-density lipoproteins (LDLs). LDLs carry the cholesterol in the blood and regulate the amount of cholesterol in the circulation. Mutations to these genes either reduce the number of receptors or cause several disruptions to their function. This results in high blood cholesterol levels and in a higher risk for heart disease.