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Normal Function
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.
Health Conditions Related to Genetic Changes
Niemann-Pick disease
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.
More About This Health ConditionOther Names for This Gene
- Niemann-Pick disease, type C1
- NPC
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
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. doi: 10.1111/j.1399-0004.2005.00490.x. Citation on PubMed
- 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. doi: 10.1002/ajmg.a.31735. Citation on PubMed
- Mengel E, Klunemann HH, Lourenco 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. Citation on PubMed or Free article on PubMed Central
- Mukherjee S, Maxfield FR. Lipid and cholesterol trafficking in NPC. Biochim Biophys Acta. 2004 Oct 11;1685(1-3):28-37. doi: 10.1016/j.bbalip.2004.08.009. Citation on PubMed
- Ory DS. The niemann-pick disease genes; regulators of cellular cholesterol homeostasis. Trends Cardiovasc Med. 2004 Feb;14(2):66-72. doi: 10.1016/j.tcm.2003.12.003. Citation on PubMed
- 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. Citation on PubMed or Free article on PubMed Central
- Scott C, Ioannou YA. The NPC1 protein: structure implies function. Biochim Biophys Acta. 2004 Oct 11;1685(1-3):8-13. doi: 10.1016/j.bbalip.2004.08.006. Citation on PubMed
- 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. doi: 10.1016/j.bbalip.2004.08.014. Citation on PubMed
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