功能： 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).,function: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.,online information:LDLR mutation database,online information:The Singapore human mutation and polymorphism database,PTM:N- and O-glycosylated.,similarity:Belongs to the LDLR family.,similarity:Contains 3 EGF-like domains.,similarity:Contains 6 LDL-receptor class B repeats.,similarity:Contains 7 LDL-receptor class A domains.,subunit:Interacts with LDLRAP1. Interacts with SNX17. Interacts with HCV E1/E2 heterodimer. Interacts with HIV-1 Tat.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cell membrane ; Single-pass type I membrane protein . Membrane, clathrin-coated pit . Golgi apparatus . Early endosome . Late endosome . Lysosome . Rapidly endocytosed upon ligand binding. .
功能： 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).,function: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.,online information:LDLR mutation database,online information:The Singapore human mutation and polymorphism database,PTM:N- and O-glycosylated.,similarity:Belongs to the LDLR family.,similarity:Contains 3 EGF-like domains.,similarity:Contains 6 LDL-receptor class B repeats.,similarity:Contains 7 LDL-receptor class A domains.,subunit:Interacts with LDLRAP1. Interacts with SNX17. Interacts with HCV E1/E2 heterodimer. Interacts with HIV-1 Tat.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cell membrane ; Single-pass type I membrane protein . Membrane, clathrin-coated pit . Golgi apparatus . Early endosome . Late endosome . Lysosome . Rapidly endocytosed upon ligand binding. .
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