Symbol NPC1L1 HUGO 7898 RefSeq NM_013389 | Entrez 29881 OMIM 608010 UniProt Q9UHC9 | |
Niemann-Pick C1-Like 1 (NPC1L1) is a gene associated with NPC1 which mutation results in Niemann-Pick disease. It codes for Niemann-Pick C1-like protein 1, found on the gastrointestinal tract epithelial cells as well as in hepatocytes. Specifically, it appears to bind to a critical mediator of cholesterol absorption.
The drug ezetimibe blocks the NPC1L1 causing a reduction in cholesterol absorption, resulting in a blood cholesterol reduction of between 15-20%. Polymorphic variations in NPC1L1 gene could be associated with non-response to ezetimibe treatment.
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
References
NPC1L1 Wikipedia(Text) CC BY-SA