Low Density Lipoprotein Receptor (LDLR) Antibody – Rabbit Polyclonal

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]

LDLR: 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. Defects in LDLR are the cause of familial hypercholesterolemia (FH); 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. 4 isoforms of the human protein are produced by alternative splicing.

Protein type: Cell surface; Membrane protein, integral; Receptor, misc.

Chromosomal Location of Human Ortholog: 19p13.2

Cellular Component: apical part of cell; basolateral plasma membrane; cell surface; clathrin-coated pit; early endosome; endosome membrane; external side of plasma membrane; Golgi apparatus; integral component of plasma membrane; intracellular; late endosome; low-density lipoprotein particle; lysosome; membrane; PCSK9-LDLR complex; plasma membrane; receptor complex; somatodendritic compartment

Molecular Function: amyloid-beta binding; calcium ion binding; clathrin heavy chain binding; identical protein binding; low-density lipoprotein particle binding; low-density lipoprotein receptor activity; protease binding; protein binding; very-low-density lipoprotein receptor activity; viral receptor activity

Biological Process: cellular response to fatty acid; cellular response to low-density lipoprotein particle stimulus; cholesterol homeostasis; cholesterol metabolic process; cholesterol transport; chylomicron remnant clearance; endocytosis; entry of virus into host cell; intestinal cholesterol absorption; lipid metabolic process; lipoprotein catabolic process; long-term memory; low-density lipoprotein particle clearance; negative regulation of amyloid fibril formation; negative regulation of astrocyte activation; negative regulation of gene expression; negative regulation of microglial cell activation; negative regulation of protein metabolic process; phospholipid transport; plasma lipoprotein particle clearance; positive regulation of amyloid-beta clearance; positive regulation of endocytosis; positive regulation of gene expression; positive regulation of inflammatory response; positive regulation of lipoprotein particle clearance; positive regulation of lysosomal protein catabolic process; positive regulation of triglyceride biosynthetic process; receptor-mediated endocytosis; receptor-mediated endocytosis involved in cholesterol transport; regulation of cholesterol homeostasis; regulation of cholesterol metabolic process; regulation of phosphatidylcholine catabolic process; regulation of protein metabolic process; response to caloric restriction

Disease: Hypercholesterolemia, Familial