Full name: low density lipoprotein receptor

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: FH; FHC; FHCL1; LDLCQ2

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]

Expression: Ubiquitous expression in adrenal (RPKM 29.0), lung (RPKM 28.5) and 25 other tissues

Gene size: 44358bp

Exon count: 18