NPC1L1
| 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[1] as well as in hepatocytes.[2] 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.[3]
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[4]
See also
External links
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- NPC1L1+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
References
- ↑ Garcia-Calvo, M; Lisnock, J; Bull, HG; Hawes, BE; Burnett, DA; Braun, MP; et al. (2005). "The target of ezetimibe is Niemann-Pick C1-Like 1 (NPC1L1)". Proc Natl Acad Sci U S A. 102 (23): 8132–7. doi:10.1073/pnas.0500269102. PMC 1149415. PMID 15928087.
- ↑ Temel, Ryan E.; Tang, Weiqing; Ma, Yinyan; Rudel, Lawrence L.; Willingham, Mark C.; Ioannou, Yiannis A.; Davies, Joanna P.; Nilsson, Lisa-Mari; Yu, Liqing (2007). "Hepatic Niemann-Pick C1-like 1 regulates biliary cholesterol concentration and is a target of ezetimibe". J. Clin. Invest.
- ↑ Niemann-Pick C1-like protein 1 precursor - Homo sapiens (Human). Available from: http://www.uniprot.org/uniprot/Q9UHC9 Accessed 3 September 2012
- ↑ Sainz, Bruno; Barretto, Naina; Martin, Danyelle N; Hiraga, Nobuhiko; Imamura, Michio; Hussain, Snawar; Marsh, Katherine A; Yu, Xuemei; Chayama, Kazuaki; Alrefai, Waddah A; Uprichard, Susan L (8 January 2012). "Identification of the Niemann-Pick C1–like 1 cholesterol absorption receptor as a new hepatitis C virus entry factor". Nature Medicine. 18 (2): 281–285. doi:10.1038/nm.2581. PMC 3530957. PMID 22231557.
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