Low Density Lipoprotein Receptor
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Low Density Lipoprotein Receptor Definition
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. (LocusLink)
Low Density Lipoprotein Receptor Synonyms
Low Density Lipoprotein Receptor, LDL Receptor, LDLR, Low-Density Lipoprotein Receptor
Terms in Low Density Lipoprotein Receptor category
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