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NCF2 gene

Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

NCF2 gene

The NCF2 gene provides instructions for creating a protein essential to the immune system's ability to destroy foreign invaders and regulate inflammation.

Normal Function

The NCF2 gene provides instructions for making a protein called neutrophil cytosolic factor 2 (also known as p67-phox). This protein is a subunit of an enzyme complex called NADPH oxidase, which is primarily active in immune system cells known as phagocytes. These cells are responsible for catching and destroying foreign invaders like bacteria and fungi.

NADPH oxidase also helps regulate the activity of neutrophils, which adjust the inflammatory response to optimize healing and minimize bodily injury. When phagocytes encounter foreign invaders, they assemble NADPH oxidase to convert oxygen into a toxic molecule called superoxide. This leads to the production of other reactive oxygen species, such as hydrogen peroxide and hypochlorous acid, which the body uses to kill invaders and prevent illness.

Health Conditions Related to Genetic Changes

Chronic granulomatous disease

Mutations in the NCF2 gene are responsible for less than 5 percent of cases of chronic granulomatous disease. These mutations result in a nonfunctional or absent neutrophil cytosolic factor 2 protein, preventing the proper assembly of NADPH oxidase. Consequently, phagocytes cannot produce the reactive oxygen species necessary to kill invaders, leaving individuals vulnerable to recurrent infections and excessive inflammation.

Systemic lupus erythematosus

Normal variations in the NCF2 gene may increase the risk of systemic lupus erythematosus, an autoimmune disorder. These variants are thought to produce a protein with altered function that impairs NADPH oxidase activity. The resulting decrease in reactive oxygen species production causes the body to overcompensate by activating more immune cells, which increases the risk of the immune system attacking the body's own tissues and organs.

Other Names for This Gene

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

Frequently Asked Questions

Individuals with NCF2-related CGD often suffer from recurrent bacterial and fungal infections, especially with organisms such as Staphylococcus aureus, Serratia marcescens, Aspergillus species, and Candida. These infections can affect the lungs, skin, lymph nodes, and bloodstream, and they may present as pneumonia, abscesses, or sepsis. Early recognition and prompt treatment are essential to prevent complications.
Diagnosis typically involves a combination of clinical evaluation, laboratory tests, and genetic analysis. Functional assays such as the nitroblue tetrazolium (NBT) test or dihydrorhodamine (DHR) flow cytometry measure the oxidative burst of neutrophils. If these tests suggest impaired reactive oxygen species production, a DNA sequencing panel for CGD genes—including NCF2—is performed to confirm the specific mutation.
Management includes lifelong prophylactic antibiotics (e.g., trimethoprim-sulfamethoxazole) and antifungal agents (e.g., itraconazole) to reduce infection frequency. Interferon-gamma therapy can boost neutrophil function in some patients. In severe cases, hematopoietic stem cell transplantation (HSCT) offers a potential cure by providing functional neutrophils. Gene therapy approaches are under investigation but not yet widely available.
Yes. Since NCF2-related CGD is inherited in an autosomal recessive pattern, both parents of an affected individual are typically carriers. Genetic counseling and testing of siblings or prospective parents can determine carrier status. Prenatal testing or preimplantation genetic diagnosis (PGD) may be options for families wishing to avoid affected offspring.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.