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Genetics Home Reference: your guide to understanding genetic conditions
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NPC1

Reviewed January 2015

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 making a protein that is located within the membrane of compartments in the cell called lysosomes and endosomes, which digest and recycle materials. While the exact function of this protein is unclear, it plays a role in the movement of cholesterol and other types of fats (lipids) within cells and 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 380 mutations in the NPC1 gene have been found to cause Niemann-Pick disease type C1. This type of Niemann-Pick disease is characterized by a buildup of fat within cells that leads to movement problems, neurological impairment, lung and liver disease, and speech and feeding problems. Many of the NPC1 gene mutations result in a change in a single protein building block (amino acid) in the NPC1 protein. These mutations usually cause a shortage of functional protein, which prevents movement of cholesterol and other lipids, leading to their accumulation in cells. Because these lipids are not in their proper location in cells, many normal cell functions that require lipids (such as cell membrane formation) are impaired. The accumulation of lipids and the cell dysfunction eventually leads to cell death, causing the tissue and organ damage seen in Niemann-Pick disease type C1.

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 ; cell membrane ; cholesterol ; endosomes ; gene ; neurological ; protein ; tissue

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)
  • 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)
  • Mengel E, Klünemann HH, Lourenço CM, Hendriksz CJ, Sedel F, Walterfang M, Kolb SA. Niemann-Pick disease type C symptomatology: an expert-based clinical description. Orphanet J Rare Dis. 2013 Oct 17;8:166. doi: 10.1186/1750-1172-8-166. Review. (http://www.ncbi.nlm.nih.gov/pubmed/24135395?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)
  • Patterson MC, Mengel E, Wijburg FA, Muller A, Schwierin B, Drevon H, Vanier MT, Pineda M. Disease and patient characteristics in NP-C patients: findings from an international disease registry. Orphanet J Rare Dis. 2013 Jan 16;8:12. doi: 10.1186/1750-1172-8-12. Erratum in: Orphanet J Rare Dis. 2013;8:73. (http://www.ncbi.nlm.nih.gov/pubmed/23324478?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)

 

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 2015
Published: March 30, 2015