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Genetics Home Reference: your guide to understanding genetic conditions
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NCF4

Reviewed August 2012

What is the official name of the NCF4 gene?

The official name of this gene is “neutrophil cytosolic factor 4, 40kDa.”

NCF4 is the gene's official symbol. The NCF4 gene is also known by other names, listed below.

What is the normal function of the NCF4 gene?

The NCF4 gene provides instructions for making a protein called neutrophil cytosolic factor 4 (also known as p40-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. Specifically, 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 NCF4 gene related to health conditions?

chronic granulomatous disease - caused by mutations in the NCF4 gene

At least two mutations in the NCF4 gene have been found to cause 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. Mutations in the NCF4 gene are a rare cause of this condition. These mutations result in a decrease in functional NADPH oxidase. A shortage (deficiency) of this protein impairs the assembly or function of NADPH oxidase. 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.

Where is the NCF4 gene located?

Cytogenetic Location: 22q13.1

Molecular Location on chromosome 22: base pairs 36,860,987 to 36,878,016

The NCF4 gene is located on the long (q) arm of chromosome 22 at position 13.1.

The NCF4 gene is located on the long (q) arm of chromosome 22 at position 13.1.

More precisely, the NCF4 gene is located from base pair 36,860,987 to base pair 36,878,016 on chromosome 22.

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 NCF4?

You and your healthcare professional may find the following resources about NCF4 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 NCF4 gene or gene products?

  • NCF
  • NCF-4
  • NCF4_HUMAN
  • neutrophil cytosol factor 4
  • neutrophil NADPH oxidase factor 4
  • P40PHOX
  • p40-phox

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 NCF4?

bacteria ; chronic ; cytosol ; deficiency ; enzyme ; gene ; granulomatous ; hydrogen peroxide ; hypochlorous acid ; immune system ; infection ; inflammation ; injury ; innate immunity ; molecule ; neutrophils ; oxidase ; oxygen ; phagocytes ; protein ; reactive oxygen species ; subunit ; toxic

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (/glossary).

References

  • Matute JD, Arias AA, Wright NA, Wrobel I, Waterhouse CC, Li XJ, Marchal CC, Stull ND, Lewis DB, Steele M, Kellner JD, Yu W, Meroueh SO, Nauseef WM, Dinauer MC. A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40 phox and selective defects in neutrophil NADPH oxidase activity. Blood. 2009 Oct 8;114(15):3309-15. doi: 10.1182/blood-2009-07-231498. Epub 2009 Aug 19. (http://www.ncbi.nlm.nih.gov/pubmed/19692703?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/4689)
  • OMIM: NEUTROPHIL CYTOSOLIC FACTOR 4 (http://omim.org/entry/601488)
  • 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)
  • 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)

 

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: August 2012
Published: May 25, 2015