LDLR/LDL Receptor Active Protein | LDLR/LDL active protein
Recombinant Human LDLR/LDL Receptor Protein
After reconstitution, the protein solution is stable at -20 degree C for 3 months, at 2-8 degree C for up to 1 week.
Background: The low density lipoprotein receptor (LDLR) 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 LDLR gene lead to the autosomal dominant disorder, familial hypercholesterolemia.
NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
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: Golgi apparatus; cell surface; membrane; integral to plasma membrane; lysosome; late endosome; early endosome; plasma membrane; endosome membrane; coated pit; receptor complex; external side of plasma membrane
Molecular Function: low-density lipoprotein receptor activity; very-low-density lipoprotein receptor activity; protein binding; low-density lipoprotein binding; clathrin heavy chain binding; calcium ion binding; glycoprotein binding
Biological Process: lipoprotein catabolic process; cholesterol metabolic process; phototransduction, visible light; receptor-mediated endocytosis; cholesterol transport; viral reproduction; cholesterol absorption; endocytosis; lipoprotein metabolic process; cholesterol homeostasis; phospholipid transport; lipid metabolic process; retinoid metabolic process
Disease: Hypercholesterolemia, Familial
Research Articles on LDLR/LDL
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Product Notes
The LDLR/LDL ldlr (Catalog #AAA9144003) is an Active Protein produced from HEK293 cells and is intended for research purposes only. The product is available for immediate purchase. It is sometimes possible for the material contained within the vial of "LDLR/LDL Receptor, Active Protein" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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