Aliases for LDLR Gene
External Ids for LDLR Gene
The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. Low density lipoprotein (LDL) is normally bound at the cell membrane and taken into the cell ending up in lysosomes where the protein is degraded and the cholesterol is made available for repression of microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limiting step in cholesterol synthesis. At the same time, a reciprocal stimulation of cholesterol ester synthesis takes place. Mutations in this gene cause the autosomal dominant disorder, familial hypercholesterolemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2010]
GeneCards Summary for LDLR Gene
LDLR (Low Density Lipoprotein Receptor) is a Protein Coding gene. Diseases associated with LDLR include hypercholesterolemia, familial and ldlr-related familial hypercholesterolemia, autosomal dominant. Among its related pathways are Signaling by GPCR and Disease. GO annotations related to this gene include calcium ion binding and low-density lipoprotein particle binding. An important paralog of this gene is LRP1B.
UniProtKB/Swiss-Prot for LDLR Gene
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