NPC1L1

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Template:Short description Template:Infobox gene Niemann-Pick C1-Like 1 (NPC1L1) is a protein found on the gastrointestinal tract's epithelial cells[1] as well as in hepatocytes.[2] Specifically, it appears to bind to a critical mediator of cholesterol absorption.

The drug ezetimibe inhibits NPC1L1 causing a reduction in cholesterol absorption, resulting in a blood cholesterol reduction of 15-20%.[3] Polymorphic variations in the NPC1L1 gene could be associated with non-response to ezetimibe treatment.[4] One study found that people with inactivating mutations in the NPC1L1 gene had a lower LDL cholesterol level, as well as an around 50% reduction in the risk of coronary heart disease.[5]

NPC1L1 has been shown to be an accessory receptor for hepatitis C virus entry into cells, and thus ezetimibe might be used as a therapeutic strategy.[6]

As cancer appeared more frequently in patients treated with simvastatin-ezetimibe combination therapy in one clinical trial,[7] it had been hypothesized that NPC1L1 inhibition by ezetimibe might be associated with an increased cancer risk.[8] However, a meta-analysis of ezetimibe clinical data showed no increase in the risk of cancer from treatment with ezetimibe.[9]

References

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