Protein Name low density lipoprotein receptor
Organism Homo sapiens
Gene ID 3949
Gene Symbol


UniProt P01130 (LDLR_HUMAN), A0A024R7D5 (A0A024R7D5_HUMAN)
Relationships Total Number of functionally related compound(s) : 826
Total Number of Articles : 2301

low density lipoprotein receptor

Gene Summary

The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. The encoded protein is normally bound at the cell membrane, where it binds low density lipoprotein/cholesterol and is taken into the cell. Lysosomes release the cholesterol, which 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, May 2022]

  • low-density lipoprotein receptor
  • LDL receptor
  • low-density lipoprotein receptor class A domain-containing protein 3
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