The importance of LDL uptake to human cholesterol regulation and cardiovascular disease is highlighted by the monogenic causes of familial hypercholesterolemia that affect this pathway[6], including mutations in the genes encoding for LDLR itself, its ligand apolipoprotein B, its negative regulator PCSK9, or its endocytic adapter LDLRAP1. The gene discussed is LDLR; the disease is familial hypercholesterolemia.