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.r
Aliases: FH; FHC; LDLCQ2
Entrez GeneID: 3949
Swissprot: P01130
WB Predicted band size: 95.4kDa
Host/Isotype: Mouse IgG1
Species Reactivity: Human
Immunogen: Purified recombinant fragment of human LDLR (AA: 22-150) expressed in E. Coli.
