Reviewed August 2012
What is the official name of the NCF1 gene?
The official name of this gene is “neutrophil cytosolic factor 1.”
NCF1 is the gene's official symbol. The NCF1 gene is also known by other names, listed below.
What is the normal function of the NCF1 gene?
The NCF1 gene provides instructions for making a protein called neutrophil cytosolic factor 1 (also known as p47-phox). This protein is one part (subunit) of a group of proteins that forms an enzyme complex called NADPH oxidase, which plays an essential role in the immune system. NADPH oxidase is primarily active in immune system cells called phagocytes. These cells catch and destroy foreign invaders such as bacteria and fungi. NADPH oxidase is also thought to regulate the activity of immune cells called neutrophils. These cells play a role in adjusting the inflammatory response to optimize healing and reduce injury to the body.
The presence of foreign invaders stimulates phagocytes and triggers the assembly of NADPH oxidase. This enzyme participates in a chemical reaction that converts oxygen to a toxic molecule called superoxide. Superoxide is used to generate several other compounds, including hydrogen peroxide (a strong disinfectant) and hypochlorous acid (the active ingredient in bleach). These highly reactive, toxic substances are known as reactive oxygen species. Phagocytes use these substances to kill foreign invaders, preventing them from reproducing in the body and causing illness.
How are changes in the NCF1 gene related to health conditions?
- chronic granulomatous disease - caused by mutations in the NCF1 gene
Mutations in the NCF1 gene account for about 25 percent of cases of chronic granulomatous disease. People with this disorder are at increased risk of developing recurrent episodes of infection and inflammation due to a weakened immune system. The mutations that cause this disorder occur in both copies of the NCF1 gene in each cell. Ninety-five percent of affected individuals have a mutation known as delta GT that deletes two DNA building blocks from the NCF1 gene in an area called exon 2 (written as 75_76delGT). This genetic change leads to the production of an abnormally short, nonfunctional version of neutrophil cytosolic factor 1. Other, less common mutations also disrupt the function or production of neutrophil cytosolic factor 1. Without this protein, NADPH oxidase cannot assemble or function properly. As a result, phagocytes are unable to produce reactive oxygen species to kill foreign invaders and neutrophil activity is not regulated. A lack of NADPH oxidase leaves affected individuals vulnerable to many types of infection and excessive inflammation.
- Williams syndrome - associated with the NCF1 gene
The NCF1 gene is located in a region of chromosome 7 that is often deleted in people with Williams syndrome. Williams syndrome is a developmental disorder that affects many parts of the body. As a result of the deletion of part of chromosome 7, some people with this condition are missing one copy of the NCF1 gene in each cell. Researchers have found that the loss of this gene is a protective factor that appears to lower the risk of developing high blood pressure (hypertension). People with Williams syndrome whose NCF1 gene is not deleted have a higher risk of developing hypertension.
People with only one copy of the NCF1 gene have reduced levels of the neutrophil cytosolic factor 1 protein, which decreases the activity of NADPH oxidase and results in the production of fewer reactive oxygen species. Studies suggest that reactive oxygen species play an important role in blood vessel changes related to hypertension.
Where is the NCF1 gene located?
Cytogenetic Location: 7q11.23
Molecular Location on chromosome 7: base pairs 74,773,962 to 74,789,376
The NCF1 gene is located on the long (q) arm of chromosome 7 at position 11.23.
More precisely, the NCF1 gene is located from base pair 74,773,962 to base pair 74,789,376 on chromosome 7.
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 NCF1?
You and your healthcare professional may find the following resources about NCF1 helpful.
Educational resources - Information pages
- Emory University School of Medicine: NADPH Oxidase Page (http://pathology.emory.edu/Lambeth/nadphpage.html)
- Immunobiology: The Immune System in Health and Disease (2001, fifth edition): Defects in phagocytic cells permit widespread bacterial infections (http://www.ncbi.nlm.nih.gov/books/NBK27109/)
- Molecular Biology of the Cell (fourth edition, 2002): Phagocytic Cells Seek, Engulf, and Destroy Pathogens (http://www.ncbi.nlm.nih.gov/books/NBK26846/)
Gene Reviews - Clinical summary
- Gene Review: Chronic Granulomatous Disease (http://www.ncbi.nlm.nih.gov/books/NBK99496)
- Gene Review: Williams Syndrome (http://www.ncbi.nlm.nih.gov/books/NBK1249)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for NCF1 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=653361%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=%28NCF1%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/608512)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_NCF1.html)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=7660)
- ID Bases: NCF1 Gene Mutation Database (http://structure.bmc.lu.se/idbase/NCF1base/index.php)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/653361)
What other names do people use for the NCF1 gene or gene products?
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 NCF1?
hydrogen peroxide ;
hypochlorous acid ;
immune system ;
innate immunity ;
reactive oxygen species ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Babior BM, Lambeth JD, Nauseef W. The neutrophil NADPH oxidase. Arch Biochem Biophys. 2002 Jan 15;397(2):342-4. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11795892?dopt=Abstract)
- Chanock SJ, Roesler J, Zhan S, Hopkins P, Lee P, Barrett DT, Christensen BL, Curnutte JT, Görlach A. Genomic structure of the human p47-phox (NCF1) gene. Blood Cells Mol Dis. 2000 Feb;26(1):37-46. (http://www.ncbi.nlm.nih.gov/pubmed/10772875?dopt=Abstract)
- Del Campo M, Antonell A, Magano LF, Muñoz FJ, Flores R, Bayés M, Pérez Jurado LA. Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome decreases their risk of hypertension. Am J Hum Genet. 2006 Apr;78(4):533-42. Epub 2006 Jan 31. (http://www.ncbi.nlm.nih.gov/pubmed/16532385?dopt=Abstract)
- Jurkowska M, Bernatowska E, Bal J. Genetic and biochemical background of chronic granulomatous disease. Arch Immunol Ther Exp (Warsz). 2004 Mar-Apr;52(2):113-20. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15179325?dopt=Abstract)
- Kannengiesser C, Gérard B, El Benna J, Henri D, Kroviarski Y, Chollet-Martin S, Gougerot-Pocidalo MA, Elbim C, Grandchamp B. Molecular epidemiology of chronic granulomatous disease in a series of 80 kindreds: identification of 31 novel mutations. Hum Mutat. 2008 Sep;29(9):E132-49. doi: 10.1002/humu.20820. (http://www.ncbi.nlm.nih.gov/pubmed/18546332?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/653361)
- Roesler J, Curnutte JT, Rae J, Barrett D, Patino P, Chanock SJ, Goerlach A. Recombination events between the p47-phox gene and its highly homologous pseudogenes are the main cause of autosomal recessive chronic granulomatous disease. Blood. 2000 Mar 15;95(6):2150-6. (http://www.ncbi.nlm.nih.gov/pubmed/10706888?dopt=Abstract)
- Roos D, de Boer M, Köker MY, Dekker J, Singh-Gupta V, Ahlin A, Palmblad J, Sanal O, Kurenko-Deptuch M, Jolles S, Wolach B. Chronic granulomatous disease caused by mutations other than the common GT deletion in NCF1, the gene encoding the p47phox component of the phagocyte NADPH oxidase. Hum Mutat. 2006 Dec;27(12):1218-29. (http://www.ncbi.nlm.nih.gov/pubmed/16972229?dopt=Abstract)
- Roos D, Kuhns DB, Maddalena A, Bustamante J, Kannengiesser C, de Boer M, van Leeuwen K, Köker MY, Wolach B, Roesler J, Malech HL, Holland SM, Gallin JI, Stasia MJ. Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update). Blood Cells Mol Dis. 2010 Apr 15;44(4):291-9. doi: 10.1016/j.bcmd.2010.01.009. Epub 2010 Feb 18. Review. (http://www.ncbi.nlm.nih.gov/pubmed/20167518?dopt=Abstract)
- Stasia MJ, Li XJ. Genetics and immunopathology of chronic granulomatous disease. Semin Immunopathol. 2008 Jul;30(3):209-35. doi: 10.1007/s00281-008-0121-8. Epub 2008 May 29. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18509647?dopt=Abstract)
- Sumimoto H. Structure, regulation and evolution of Nox-family NADPH oxidases that produce reactive oxygen species. FEBS J. 2008 Jul;275(13):3249-77. doi: 10.1111/j.1742-4658.2008.06488.x. Epub 2008 May 30. Review. Erratum in: FEBS J. 2008 Aug;275(15):3984. (http://www.ncbi.nlm.nih.gov/pubmed/18513324?dopt=Abstract)
- Vázquez N, Lehrnbecher T, Chen R, Christensen BL, Gallin JI, Malech H, Holland S, Zhu S, Chanock SJ. Mutational analysis of patients with p47-phox-deficient chronic granulomatous disease: The significance of recombination events between the p47-phox gene (NCF1) and its highly homologous pseudogenes. Exp Hematol. 2001 Feb;29(2):234-43. (http://www.ncbi.nlm.nih.gov/pubmed/11166463?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.