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]
Function
calcium ion binding; glycoprotein binding; low-density lipoprotein particle binding; low-density lipoprotein receptor activity; protein binding; very-low-density lipoprotein particle receptor activity
Synonyms
LDLR; low density lipoprotein receptor; FH; FHC; LDLCQ2; low-density lipoprotein receptor; LDL receptor; low-density lipoprotein receptor class A domain-containing protein 3
Citations
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