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NCF2

NCF2

Reviewed August 2012

What is the official name of the NCF2 gene?

The official name of this gene is “neutrophil cytosolic factor 2.”

NCF2 is the gene's official symbol. The NCF2 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the NCF2 gene?

The NCF2 gene provides instructions for making a protein called neutrophil cytosolic factor 2 (also known as p67-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.

Does the NCF2 gene share characteristics with other genes?

The NCF2 gene belongs to a family of genes called TTC (tetratricopeptide (TTC) repeat domain containing).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.

How are changes in the NCF2 gene related to health conditions?

chronic granulomatous disease - caused by mutations in the NCF2 gene

More than 50 mutations in the NCF2 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 NCF2 gene cause less than 5 percent of all cases of this condition. These mutations change single protein building blocks (amino acids) in the neutrophil cytosolic factor 2 protein, which cause the protein to be abnormally short and nonfunctional or alter its 3-dimensional structure. All of these mutations decrease the function of the neutrophil cytosolic factor 2 protein or prevent its production. 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.

autoimmune disorders - increased risk from variations of the NCF2 gene

Studies suggest that certain normal variations in the NCF2 gene can increase the risk of a condition called systemic lupus erythematosus. This condition is one of a group of related diseases known as autoimmune disorders, which occur when the immune system malfunctions and attacks the body's tissues and organs. The variants associated with increased risk of systemic lupus erythematosus change single DNA building blocks (nucleotides) in the NCF2 gene. These changes are thought to result in the production of a neutrophil cytosolic factor 2 protein with an altered function that impairs the function of NADPH oxidase. As a result, fewer reactive oxygen species are produced when foreign invaders trigger an immune reaction. This lack of reactive oxygen species causes the body to overcompensate by activating more immune cells and producing more immune proteins. The overactive immune reaction increases the risk that the immune cells will attack the body's tissues and organs, causing systemic lupus erythematosus. Researchers believe that a combination of genetic and environmental factors play a role in development of this complex condition.

Genetics Home Reference provides information about systemic lupus erythematosus, which is also associated with changes in the NCF2 gene.

Where is the NCF2 gene located?

Cytogenetic Location: 1q25

Molecular Location on chromosome 1: base pairs 183,555,561 to 183,590,920

The NCF2 gene is located on the long (q) arm of chromosome 1 at position 25.

The NCF2 gene is located on the long (q) arm of chromosome 1 at position 25.

More precisely, the NCF2 gene is located from base pair 183,555,561 to base pair 183,590,920 on chromosome 1.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about NCF2?

You and your healthcare professional may find the following resources about NCF2 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 NCF2 gene or gene products?

  • NADPH oxidase activator 2
  • NCF-2
  • NCF2_HUMAN
  • neutrophil cytosol factor 2
  • NOXA2
  • P67PHOX
  • P67-PHOX

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding NCF2?

References (8 links)

 

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? in the Handbook.

 
Reviewed: August 2012
Published: February 23, 2015