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Gene · Cardiovascular
LDLR
Low-density lipoprotein receptor — The receptor liver cells use to clear LDL cholesterol from the blood; faults in it are the commonest cause of familial hypercholesterolemia.
19p13.2cholesterolin vivo
Apenas esquemático — as proporções dos braços são aproximadas e o detalhe das bandas não está à escala. Localização citogenética conforme publicada pelo NCBI Gene.
O que esse gene faz
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 ↗
Written by The CRISPR Atlas editorial teamLast updated Aug 19, 2026
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