这个基因的功能
LDL cholesterol is removed from the blood by receptors on liver cells that catch it and pull it inside. LDLR is the gene for that receptor. If you inherit a faulty copy, you have fewer working receptors, cholesterol accumulates from childhood, and heart disease arrives decades early.
LDLR, at 19p13.2, encodes the low-density lipoprotein receptor mediating hepatic clearance of LDL particles. Loss-of-function variants are the most common cause of familial hypercholesterolemia; heterozygotes have roughly doubled LDL and markedly premature coronary disease. Editing strategies aim to increase LDLR activity — the mirror image of PCSK9 knockout, which achieves the same end indirectly.
Sources
- MedlinePlus Genetics, U.S. National Library of Medicine
LDLR gene ↗