NCF1

The NCF1 gene provides instructions for making a protein called neutrophil cytosolic factor 1. This protein is one part (subunit) of a larger enzyme complex called NADPH oxidase, which plays an essential role in the immune system. Specifically, NADPH oxidase is active in immune system cells called phagocytes. These cells engulf and destroy foreign invaders such as viruses, bacteria, and fungi.

The presence of foreign invaders activates 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.

Williams syndrome - associated with the NCF1 gene

The NCF1 gene is located in a region of chromosome 7 that is often deleted in people with Williams syndrome. As a result of this deletion, 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 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 neutrophil cytosolic factor 1 protein, which decreases the activity of NADPH oxidase and results in the production of fewer reactive oxygen species. Studies suggest that reactive oxygen species play an important role in blood vessel changes related to hypertension.

other disorders - caused by mutations in the NCF1 gene

Mutations in the NCF1 gene are responsible for some cases of a condition called chronic granulomatous disease. People with this disorder are at increased risk of developing recurrent, serious bacterial and fungal infections. The mutations responsible for this disorder occur in both copies of the NCF1 gene in each cell. The most common mutation, which is known as delta GT, deletes two DNA building blocks from the NCF1 gene. This genetic change leads to the production of an abnormally small, nonfunctional version of neutrophil cytosolic factor 1. Other, less common mutations also disrupt the function of neutrophil cytosolic factor 1. Without this protein, NADPH oxidase cannot function properly and phagocytes are unable to produce reactive oxygen species to kill foreign invaders. A lack of NADPH oxidase leaves affected individuals vulnerable to many types of infection.