LDL Receptor ist ein Gen, das durch das Symbol LDLR kodiert wird. Im Allgemeinen auch bezeichnet als: Low-density lipoprotein receptor; LDLR. LDL Receptor hat eine Masse von 95.38kDa, eine Aminosäurelänge von 860, und ist an Familial hypercholesterolemia beteiligt.
Wir bieten 8 LDL Receptor ELISA-Kits zum qualitativen oder quantitativen Nachweis von LDL Receptor von Human, Maus und Ratte proben.
Gen- und Proteininformationen
UniProt Zusammenfassung
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.
Entrez Zusammenfassung
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.
Rolle bei Krankheiten
Familial hypercholesterolemia: A common autosomal dominant disorder characterized by elevated serum low-density lipoprotein (LDL) cholesterol levels, which result in excess deposition of cholesterol in tissues and leads to xanthelasma, xanthomas, accelerated atherosclerosis and increased risk of premature coronary heart disease. The disorder occurs in 2 clinical forms: a mild form that becomes evident in the fourth or fifth decade in individuals carrying heterozygous LDLR mutations; a more severe form that usually manifests in the first two decades of life in individuals with homozygous LDLR mutations.
Sequenzähnlichkeiten
Belongs to the LDLR family.
Posttranslationale Modifikation
N- and O-glycosylated.
Zellort
Cell membrane. Membrane > Clathrin-coated pit. Golgi apparatus. Early endosome. Late endosome. Lysosome.
Rapidly endocytosed upon ligand binding.
