ABD37052.1
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
LDLR, partial
NCBI Official Synonym Full Names
low density lipoprotein receptor
NCBI Protein Information
low-density lipoprotein receptor
UniProt Protein Name
Low-density lipoprotein receptor
UniProt Synonym Gene Names
NCBI Summary for LDLR
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 Comments for LDLR
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; coated pit; early endosome; endosome membrane; external side of plasma membrane; Golgi apparatus; integral to plasma membrane; late endosome; lysosome; membrane; plasma membrane; receptor complex
Molecular Function: clathrin heavy chain binding; glycoprotein binding; identical protein binding; low-density lipoprotein binding; low-density lipoprotein receptor activity; protease binding; protein binding; very-low-density lipoprotein receptor activity
Biological Process: cholesterol absorption; cholesterol homeostasis; cholesterol transport; endocytosis; lipid metabolic process; phospholipid transport; receptor-mediated endocytosis
Disease: Hypercholesterolemia, Familial
Research Articles on LDLR
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Products associated with anti-LDLR antibody
Pathways associated with anti-LDLR antibody
Diseases associated with anti-LDLR antibody
Organs/Tissues associated with anti-LDLR antibody
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