Niemann-Pick C1-Like 1

NPC1 (Niemann-Pick disease, type C1, gene)-like 1
Identifiers
Symbol	NPC1L1
Entrez	29881
HUGO	7898
OMIM	608010
RefSeq	NM_013389
UniProt	Q9UHC9
Other data
Locus	Chr. 7 p13

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 . 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

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