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NCF1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

NCF1 gene

The NCF1 gene provides instructions for a protein that helps the immune system destroy foreign invaders and regulates inflammatory responses.

Normal Function

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 (NOX), which plays an essential role in the immune system. NOX is primarily active in immune system cells called phagocytes, which catch and destroy foreign invaders such as bacteria and fungi. NOX is also thought to regulate the activity of immune cells called neutrophils, which adjust the inflammatory response to optimize healing and reduce injury.

The presence of foreign invaders stimulates phagocytes and triggers the assembly of NOX. 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 and hypochlorous acid. These highly reactive, toxic substances are known as reactive oxygen species (ROS). Phagocytes use these substances to kill foreign invaders. NOX also plays a role in other cell types, such as blood vessel cells, where it influences blood pressure and other biological processes.

Health Conditions Related to Genetic Changes

Chronic granulomatous disease

Variants 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 variants that cause this disorder occur in both copies of the NCF1 gene. Ninety-five percent of affected individuals have a variant known as delta GT (75_76delGT) that deletes two DNA building blocks, leading to the production of an abnormally short, nonfunctional version of the protein. Without this protein, NOX cannot assemble or function properly, leaving phagocytes unable to produce ROS to kill foreign invaders.

Williams syndrome

The NCF1 gene is located in a region of chromosome 7 that is often deleted in people with Williams syndrome. 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 only one copy of the NCF1 gene have reduced levels of the protein, which decreases the activity of NOX and results in the production of fewer ROS, which are linked to blood vessel changes related to hypertension.

Other Names for This Gene

  • NCF1_HUMAN
  • p47-phox
  • p47phox
  • SH3PXD1A

Frequently Asked Questions

Diagnosis of CGD often begins with a history of recurrent, severe infections. Specific laboratory tests are used to confirm the diagnosis, such as the dihydrorhodamine (DHR) test or nitroblue tetrazolium (NBT) test, which measure the ability of phagocytes to produce reactive oxygen species. If these tests indicate CGD, genetic testing for NCF1 gene variants can confirm the specific cause and help determine the inheritance pattern, as NCF1 variants account for about 25% of CGD cases.
Management of NCF1-related CGD focuses on preventing and treating infections. This typically involves daily prophylactic antibiotics and antifungals to reduce the risk of infection. Interferon-gamma therapy may also be used to enhance immune function. In severe cases, or for a potential cure, hematopoietic stem cell transplantation (bone marrow transplant) may be considered. Regular monitoring by an immunologist is crucial to manage the condition effectively.
Chronic granulomatous disease caused by NCF1 gene variants is inherited in an autosomal recessive pattern. This means a child must inherit two copies of the altered NCF1 gene (one from each parent) to develop the condition. If you have one altered copy, you are a carrier and typically do not show symptoms. If both parents are carriers of an NCF1 variant, there is a 25% chance with each pregnancy that their child will inherit two altered copies and develop CGD, a 50% chance the child will be a carrier, and a 25% chance the child will not inherit any altered copies.
Individuals with NCF1-related CGD are prone to severe and recurrent infections, often caused by specific bacteria and fungi. Key warning signs include persistent fevers, swollen lymph nodes, skin abscesses (boils), pneumonia that doesn't respond to standard antibiotics, liver or spleen abscesses, and chronic diarrhea. Inflammation can also manifest as painful skin lesions, mouth sores, or inflammatory bowel disease-like symptoms. Any unusual or prolonged infection should prompt immediate medical attention.
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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