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NCF4 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

NCF4 gene

The NCF4 gene provides instructions for creating a protein subunit of the NADPH oxidase enzyme, which is vital for the immune system's defense against bacteria and fungi.

Normal Function

The NCF4 gene provides instructions for making the protein neutrophil cytosolic factor 4 (also known as p40-phox). This protein is a subunit of the NADPH oxidase enzyme complex, which is active in phagocytes. These immune cells use NADPH oxidase to generate reactive oxygen species—such as superoxide, hydrogen peroxide, and hypochlorous acid—to destroy foreign invaders like bacteria and fungi. Additionally, this enzyme helps regulate neutrophil activity to manage inflammation and support healing.

Health Conditions Related to Genetic Changes

Chronic granulomatous disease

Rare mutations in the NCF4 gene can cause chronic granulomatous disease. These mutations lead to a deficiency in functional NADPH oxidase, impairing the ability of phagocytes to produce the reactive oxygen species required to kill pathogens. This results in a weakened immune system, leaving affected individuals susceptible to recurrent infections and excessive inflammation.

Other Names for This Gene

  • NCF
  • NCF-4
  • NCF4_HUMAN
  • neutrophil cytosol factor 4
  • neutrophil cytosolic factor 4, 40kDa
  • neutrophil NADPH oxidase factor 4
  • p40-phox
  • P40PHOX

Frequently Asked Questions

NCF4 encodes the p40‑phox subunit of the NADPH oxidase complex. This complex produces reactive oxygen species that kill bacteria and fungi inside phagocytes. A defective NCF4 gene means the complex cannot assemble properly, leading to a reduced or absent oxidative burst. As a result, phagocytes cannot effectively kill pathogens, causing recurrent infections and excessive inflammation.
Long‑term antibiotic prophylaxis (e.g., trimethoprim‑sulfamethoxazole) and antifungal prophylaxis (e.g., itraconazole) are commonly used. Some patients benefit from interferon‑γ therapy, which can enhance phagocyte function. In severe cases, hematopoietic stem cell transplantation offers a potential cure, but it carries significant risks and requires careful evaluation.
Functional testing of the oxidative burst (e.g., dihydrorhodamine flow cytometry) can reveal a specific defect in NADPH oxidase activity. Genetic sequencing of the NCF4 gene confirms the mutation. Other CGD forms involve mutations in CYBB, NCF1, NCF2, or CYBA, each with distinct inheritance patterns and functional assay results. A comprehensive immunologic workup, including complete blood count, immunoglobulin levels, and lymphocyte subset analysis, helps rule out other immunodeficiencies.
Patients are most prone to bacterial infections such as Staphylococcus aureus and Serratia marcescens, fungal infections like Aspergillus species, and occasionally mycobacterial infections. Skin abscesses, lung abscesses, and osteomyelitis are frequent clinical presentations. Early recognition and aggressive treatment of these infections are crucial.
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.

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