Gene:
neutrophil cytosolic factor 1 (47kDa, chronic granulomatous disease, autosomal 1)
Description:
NCF1 encodes neutrophil cytosolic facter 1, the 47-kilodalton cytosolic subunit of the multi-protein complex known as NADPH oxidase found in neutrophils. This oxidase produces a burst of superoxide which is delivered to the lumen of the neutrophil phagosome. Mutations in NCF1, as well as in other NADPH oxidase subunits, can result in chronic granulomatous disease.