Reviewed January 2015
What is the official name of the NPC2 gene?
The official name of this gene is “Niemann-Pick disease, type C2.”
NPC2 is the gene's official symbol. The NPC2 gene is also known by other names, listed below.
What is the normal function of the NPC2 gene?
The NPC2 gene provides instructions for making a protein that is located inside lysosomes, which are compartments in the cell that digest and recycle materials. The NPC2 protein attaches (binds) to cholesterol. Cholesterol is a waxy, fat-like substance that is produced in the body and obtained from foods. Research suggests that the NPC2 protein plays an important role in moving cholesterol and certain other fats (lipids) out of the lysosomes to other parts of the cell.
How are changes in the NPC2 gene related to health conditions?
- Niemann-Pick disease - caused by mutations in the NPC2 gene
More than 20 mutations in the NPC2 gene have been found to cause Niemann-Pick disease type C2. 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. The NPC2 gene mutations that cause Niemann-Pick disease type C2 reduce or eliminate NPC2 protein activity, 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 C2.
Where is the NPC2 gene located?
Cytogenetic Location: 14q24.3
Molecular Location on chromosome 14: base pairs 74,479,939 to 74,493,380
The NPC2 gene is located on the long (q) arm of chromosome 14 at position 24.3.
More precisely, the NPC2 gene is located from base pair 74,479,939 to base pair 74,493,380 on chromosome 14.
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 NPC2?
You and your healthcare professional may find the following resources about NPC2 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=%28NPC2%5BTIAB%5D%29%20AND%20%28%28Genes%5BMH%5D%29%20OR%20%28Genetic%20Phenomena%5BMH%5D%29%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203600%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/601015)
Research Resources - Tools for researchers
- GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=10577)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=14537)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/10577)
What other names do people use for the NPC2 gene or gene products?
- epididymal secretory protein
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 NPC2?
cell membrane ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Chikh K, Vey S, Simonot C, Vanier MT, Millat G. Niemann-Pick type C disease: importance of N-glycosylation sites for function and cellular location of the NPC2 protein. Mol Genet Metab. 2004 Nov;83(3):220-30. (http://www.ncbi.nlm.nih.gov/pubmed/15542393?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)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/10577)
- OMIM: NPC2 GENE (http://omim.org/entry/601015)
- 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)
- 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)
- Vanier MT, Millat G. Structure and function of the NPC2 protein. Biochim Biophys Acta. 2004 Oct 11;1685(1-3):14-21. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15465422?dopt=Abstract)
- Verot L, Chikh K, Freydière E, Honoré R, Vanier MT, Millat G. Niemann-Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2. Clin Genet. 2007 Apr;71(4):320-30. (http://www.ncbi.nlm.nih.gov/pubmed/17470133?dopt=Abstract)
- Xu S, Benoff B, Liou HL, Lobel P, Stock AM. Structural basis of sterol binding by NPC2, a lysosomal protein deficient in Niemann-Pick type C2 disease. J Biol Chem. 2007 Aug 10;282(32):23525-31. Epub 2007 Jun 14. (http://www.ncbi.nlm.nih.gov/pubmed/17573352?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
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.