Reviewed January 2008
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 producing a protein that is located mainly inside lysosomes, compartments in the cell that digest and recycle materials. The NPC2 protein binds to cholesterol. Research suggests that it plays an important role in moving cholesterol and certain other lipids (fats) out of the lysosomes to other parts of the cell, but the exact function of the NPC2 protein is unknown.
How are changes in the NPC2 gene related to health conditions?
- Niemann-Pick disease - caused by mutations in the NPC2 gene
More than 15 mutations in the NPC2 gene have been found to cause Niemann-Pick disease type C2. Mutations in the NPC2 gene are responsible for approximately 5 percent of all Niemann-Pick disease type C cases. Mutations that prevent any NPC2 protein from being made or that drastically shorten the NPC2 protein usually result in very severe disease with infant or juvenile onset. Mutations that change a single protein building block (amino acid) in the NPC2 protein usually retain some protein activity and result in less severe, more slowly progressing Niemann-Pick disease. These mutations cause the abnormal accumulation of lipids in cells and prevent normal cell function.
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.
- Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1296)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for NPC2 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10577%5Bgeneid%5D)
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=%28%28NPC2%5BTIAB%5D%29%20OR%20%28Niemann-Pick%20disease,%20type%20C%5BALL%5D%29%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?
amino acid ;
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)
- 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)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/10577)
- OMIM: NPC2 GENE (http://omim.org/entry/601015)
- 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)
- 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)
- 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)
- 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.