{"symbol":"LDLR","synonyms":["LDLCQ2"],"name":"low density lipoprotein receptor","description":"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]","ncbiEntrezGeneId":3949,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/3949","proteins":[{"symbol":"LDLR_HUMAN","href":"/api/1.0/protein/LDLR_HUMAN"}],"hgncRootFamilies":[{"name":"Low density lipoprotein receptors","href":"/api/1.0/gene_family/Low+density+lipoprotein+receptors"}]}