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Genetics Home Reference: your guide to understanding genetic conditions
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NPC1

Reviewed January 2008

What is the official name of the NPC1 gene?

The official name of this gene is “Niemann-Pick disease, type C1.”

NPC1 is the gene's official symbol. The NPC1 gene is also known by other names, listed below.

What is the normal function of the NPC1 gene?

The NPC1 gene provides instructions for producing a protein located mainly in the membranes of the lysosomes and endosomes, compartments in the cell that digest and recycle materials. While its exact function is not completely understood, this protein plays a role in the movement of cholesterol and other types of lipids (fats) across cell membranes.

How are changes in the NPC1 gene related to health conditions?

Niemann-Pick disease - caused by mutations in the NPC1 gene

More than 250 mutations in the NPC1 gene have been found to cause Niemann-Pick disease type C1. Mutations in the NPC1 gene are responsible for approximately 95 percent of all Niemann-Pick disease type C cases. Many of the mutations change a single protein building block (amino acid) in the NPC1 protein. These mutations usually cause a shortage of this protein, which leads to the abnormal accumulation of cholesterol and other lipids within cells. This lipid accumulation prevents cells from functioning normally and can lead to cell death.

Where is the NPC1 gene located?

Cytogenetic Location: 18q11.2

Molecular Location on chromosome 18: base pairs 23,506,183 to 23,586,616

The NPC1 gene is located on the long (q) arm of chromosome 18 at position 11.2.

The NPC1 gene is located on the long (q) arm of chromosome 18 at position 11.2.

More precisely, the NPC1 gene is located from base pair 23,506,183 to base pair 23,586,616 on chromosome 18.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about NPC1?

You and your healthcare professional may find the following resources about NPC1 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the NPC1 gene or gene products?

  • NPC

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding NPC1?

amino acid ; cell ; cholesterol ; endosomes ; gene ; lipid ; protein

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

References

  • Fernandez-Valero EM, Ballart A, Iturriaga C, Lluch M, Macias J, Vanier MT, Pineda M, Coll MJ. Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations. Clin Genet. 2005 Sep;68(3):245-54. (http://www.ncbi.nlm.nih.gov/pubmed/16098014?dopt=Abstract)
  • Frolov A, Zielinski SE, Crowley JR, Dudley-Rucker N, Schaffer JE, Ory DS. NPC1 and NPC2 regulate cellular cholesterol homeostasis through generation of low density lipoprotein cholesterol-derived oxysterols. J Biol Chem. 2003 Jul 11;278(28):25517-25. Epub 2003 Apr 28. (http://www.ncbi.nlm.nih.gov/pubmed/12719428?dopt=Abstract)
  • Garver WS, Francis GA, Jelinek D, Shepherd G, Flynn J, Castro G, Walsh Vockley C, Coppock DL, Pettit KM, Heidenreich RA, Meaney FJ. The National Niemann-Pick C1 disease database: report of clinical features and health problems. Am J Med Genet A. 2007 Jun 1;143A(11):1204-11. (http://www.ncbi.nlm.nih.gov/pubmed/17497724?dopt=Abstract)
  • Liscum L, Sturley SL. Intracellular trafficking of Niemann-Pick C proteins 1 and 2: obligate components of subcellular lipid transport. Biochim Biophys Acta. 2004 Oct 11;1685(1-3):22-7. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15465423?dopt=Abstract)
  • Mukherjee S, Maxfield FR. Lipid and cholesterol trafficking in NPC. Biochim Biophys Acta. 2004 Oct 11;1685(1-3):28-37. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15465424?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/4864)
  • OMIM: NPC1 GENE (http://omim.org/entry/607623)
  • Ory DS. The niemann-pick disease genes; regulators of cellular cholesterol homeostasis. Trends Cardiovasc Med. 2004 Feb;14(2):66-72. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15030792?dopt=Abstract)
  • Scott C, Ioannou YA. The NPC1 protein: structure implies function. Biochim Biophys Acta. 2004 Oct 11;1685(1-3):8-13. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15465421?dopt=Abstract)
  • Sturley SL, Patterson MC, Balch W, Liscum L. The pathophysiology and mechanisms of NP-C disease. Biochim Biophys Acta. 2004 Oct 11;1685(1-3):83-7. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15465429?dopt=Abstract)
  • Walkley SU, Suzuki K. Consequences of NPC1 and NPC2 loss of function in mammalian neurons. Biochim Biophys Acta. 2004 Oct 11;1685(1-3):48-62. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15465426?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: January 2008
Published: December 22, 2014