Low density lipoprotein receptor class A domain containing protein 3
Low density lipoprotein receptor familial hypercholesterolemia
Low-density lipoprotein receptor
Binds LDL, the major cholesterol-carrying lipoprotein of plasma, and transports it into cells by endocytosis. In order to be internalized, the receptor-ligand complexes must first cluster into clathrin-coated pits. In case of HIV-1 infection, functions as a receptor for extracellular Tat in neurons, mediating its internalization in uninfected cells.
Involvement in disease
Defects in LDLR are the cause of familial hypercholesterolemia (FH) [MIM:143890]; a common autosomal semi-dominant disease that affects about 1 in 500 individuals. The receptor defect impairs the catabolism of LDL, and the resultant elevation in plasma LDL-cholesterol promotes deposition of cholesterol in the skin (xanthelasma), tendons (xanthomas), and coronary arteries (atherosclerosis).
Belongs to the LDLR family. Contains 3 EGF-like domains. Contains 7 LDL-receptor class A domains. Contains 6 LDL-receptor class B repeats.
N- and O-glycosylated. Ubiquitinated by MYLIP leading to degradation.
Cell membrane. Endomembrane system. Membrane > clathrin-coated pit. Found distributed from the plasma membrane to intracellular compartments.