LDLR Background Information
LDLR (low density lipoprotein receptor) is a member of the LDL receptor gene family, which includes LDLR, LRP, Megalin, VLDLR and ApoER2 (1). The LDL receptor family is characterized by a cluster of cysteine-rich class A repeats, epidermal growth factor (EGF)-like repeats, YWTD repeats and an O-linked sugar domain (2). The LDL receptor is a cell surface transmembrane protein that mediates the uptake of low density lipoprotein and its degradation in the lysosome, which provides cholesterol to cells (3,4). The cytoplasmic domain of the LDL receptor is necessary for the receptor to cluster in coated pits, which promotes the rapid endocytosis of bound LDL (5,6). Mutations in LDLR cause the autosomal dominant disease, familial hypercholesterolemia (FH), which promotes premature coronary atherosclerosis (4,7).
