FH antibody, FHC antibody, LDLCQ2 antibody, Hlb301 antibody, LDLRA antibody, LDLA antibody, LDL receptor-2 antibody, fhc antibody, ldlcq2 antibody, ldlr antibody, ldlr2-a antibody, LDL receptor 1 antibody, ldlr-a antibody, ldlr-b antibody, low density lipoprotein receptor antibody, low density lipoprotein receptor a antibody, low density lipoprotein receptor S homeolog antibody, low density lipoprotein receptor L homeolog antibody, LDLR antibody, Ldlr antibody, ldlra antibody, ldlr.S antibody, ldlr.L antibody
Background
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.,LDLR,FH,FHC,LDLCQ2,Cancer,Signal Transduction,Endocrine & Metabolism,Lipid Metabolism,Cholesterol Metabolism,Cardiovascular,Heart,Lipids,Cardiovascular diseases,Heart disease,LDLR