NDTV

NCF1

NCF1 (Neutrophil Cytosolic Factor 1) is a gene that encodes a protein component of the NADPH oxidase complex, which is crucial for the immune response in humans. This protein is also known as p47phox, where "phox" stands for phagocyte oxidase. The NADPH oxidase complex is responsible for generating reactive oxygen species (ROS) that are used by phagocytes to kill invading pathogens.

Structure

The NCF1 gene is located on chromosome 7 at the position 7q11.23. The protein encoded by NCF1, p47phox, is a cytosolic component of the NADPH oxidase complex. It consists of several domains, including the PX domain, which is involved in phosphoinositide binding, and the SH3 domains, which are important for protein-protein interactions.

Function

NCF1 plays a critical role in the activation of the NADPH oxidase complex. Upon activation by various stimuli, p47phox translocates to the membrane and associates with other components of the complex, such as gp91phox (CYBB), p22phox (CYBA), p67phox (NCF2), and Rac GTPase. This assembly leads to the production of superoxide, a type of reactive oxygen species, which is essential for the microbicidal activity of phagocytes.

Clinical Significance

Mutations in the NCF1 gene can lead to chronic granulomatous disease (CGD), a rare genetic disorder characterized by the inability of phagocytes to produce reactive oxygen species. This results in recurrent bacterial and fungal infections. The most common mutation in NCF1 is a GT deletion in exon 2, which leads to a frameshift and premature stop codon.

Research and Therapeutic Implications

Research on NCF1 and its role in the immune response has implications for understanding and treating diseases related to immune dysfunction. Gene therapy and other molecular approaches are being explored to correct the genetic defects in CGD patients.

Also see

• NADPH oxidase
• Chronic granulomatous disease
• Reactive oxygen species
• Phagocyte
• Immune system