Human low-density lipoprotein receptor gene and its regulation.
The low-density lipoprotein (LDL) receptor is a transmembrane glycoprotein that mediates the binding and endocytosis of lipoproteins containing apolipoprotein B and E, especially the cholesterol-rich LDL. Mutations in the LDL receptor gene can produce dysfunctional LDL receptors and cause familial hypercholesterolemia. The expression of the LDL receptor gene is under an intriguing regulation by sterol and nonsterol mediators either at the transcriptional level or at the posttranscriptional level, both of which are linked to cell signaling pathways. Upregulation of liver LDL receptor expression is effective in treating hypercholesterolemia. In this review, we focus on the latest progress on the mechanisms and regulation of the LDL receptor gene expression.
Kong
Wei-Jia
WJ
Institute of Medicinal Biotechnology, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100050, People's Republic of China.
Liu
Jingwen
J
Jiang
Jian-Dong
JD
D005786:Gene Expression Regulation; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics; D008954:Models, Biological; D011973:Receptors, LDL / Q000235:genetics*; D012307:Risk Factors; D014158:Transcription, Genetic
D011973:Receptors, LDL