The NCF4 gene is located on chromosome 22 and encodes a protein that is approximately 40 kilodaltons in size . The protein contains several important domains, including a PX domain that binds to phospholipid products of phosphoinositide 3-kinase (PI3K), suggesting its role in PI3K-mediated signaling events . The protein also has an SH3 domain, which is involved in protein-protein interactions .
Neutrophil Cytosolic Factor 4 is primarily expressed in cells of the myeloid lineage, such as neutrophils and macrophages . It interacts with other components of the NADPH oxidase complex, including Neutrophil Cytosolic Factor 1 (p47-phox) and Neutrophil Cytosolic Factor 2 (p67-phox), to form a functional enzyme complex . Upon activation, this complex translocates to the membrane and interacts with flavocytochrome b, the catalytic core of the enzyme system, to produce superoxide anions .
Mutations in the NCF4 gene can lead to chronic granulomatous disease, a condition characterized by the inability of phagocytes to produce reactive oxygen species, resulting in recurrent infections . Additionally, Neutrophil Cytosolic Factor 4 has been implicated in various inflammatory diseases due to its role in the production of reactive oxygen species .
Recombinant forms of Neutrophil Cytosolic Factor 4 are used in research to study the function of the NADPH oxidase complex and its role in the immune response . These studies are crucial for understanding the molecular mechanisms underlying immune system disorders and for developing potential therapeutic interventions .