NCF1 : neutrophil cytosolic factor 1
Description
The NCF1 (neutrophil cytosolic factor 1) is a protein-coding gene located on chromosome 7.
The NCF1 gene provides instructions for making a protein called neutrophil cytosolic factor 1 (also known as p47-phox). This protein is a part 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 capture and destroy foreign invaders such as bacteria and fungi. NOX is also thought to regulate the activity of neutrophils, which play a role in controlling the inflammatory response. The presence of foreign invaders stimulates phagocytes and triggers the assembly of NOX. This enzyme converts oxygen to a toxic molecule called superoxide, which is used to generate other compounds like hydrogen peroxide and hypochlorous acid. These toxic substances are known as reactive oxygen species (ROS) and are used by phagocytes to kill foreign invaders. NOX is also active in other cell types, such as blood vessel cells. Abnormal blood flow in blood vessels can trigger these cells to produce more NOX, leading to increased ROS production, which can influence blood pressure and other biological processes.
NCF1, along with NCF2 and the membrane-bound cytochrome b558, is essential for activating the latent NADPH oxidase enzyme, which is crucial for generating superoxide.
NCF1 is also known as CGD1, NCF1A, NOXO2, SH3PXD1A, p47phox.
Associated Diseases
- Williams syndrome
- Chronic granulomatous disease
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I