NPC1L1

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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]

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References[edit]

  1. ^ Garcia-Calvo M, Lisnock J, Bull HG, Hawes BE, Burnett DA, Braun MP, et al. The target of ezetimibe is Niemann-Pick C1-Like 1 (NPC1L1). Proc Natl Acad Sci U S A 2005;102(23):8132-7. PMID 15928087
  2. ^ Temel, Ryan E., Tang, Weiqing, Ma, Yinyan, Rudel, Lawrence L., Willingham, Mark C., Ioannou, Yiannis A., Davies, Joanna P., Nilsson, Lisa-Mari, Yu, Liqing. Hepatic Niemann-Pick C1-like 1 regulates biliary cholesterol concentration and is a target of ezetimibe J. Clin. Invest. 2007 0: JCI30060
  3. ^ Niemann-Pick C1-like protein 1 precursor - Homo sapiens (Human). Available from: http://www.uniprot.org/uniprot/Q9UHC9 Accessed 3 September 2012