低密度脂蛋白受體（ldlr）基因家族由參與受體介導的特異性配體內吞的細胞表面蛋白組成。低密度脂蛋白（LDL）通常結合在細胞膜上，進入細胞，最后進入溶酶體，在溶酶體中蛋白質被降解，膽固醇可用于抑制微粒體酶3-羥基-3-甲基戊二酰輔酶A（HMG-CoA）還原酶，這是膽固醇合成的限速步驟同時，膽固醇酯的合成也發生了相互刺激該基因突變導致常染色體顯性遺傳病，家族性高膽固醇血癥。交替剪接導致多個轉錄變體。[由RefSeq提供，2010年9月]
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]