Gene Symbol | NCF2 |
Entrez Gene ID | 4688 |
Full Name | neutrophil cytosolic factor 2 |
Synonyms | NCF-2,NOXA2,P67-PHOX,P67PHOX |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes neutrophil cytosolic factor 2, the 67-kilodalton cytosolic subunit of the multi-protein NADPH oxidase complex found in neutrophils. This oxidase produces a burst of superoxide which is delivered to the lumen of the neutrophil phagosome. Mutations in this gene, as well as in other NADPH oxidase subunits, can result in chronic granulomatous disease, a disease that causes recurrent infections by catalase-positive organisms. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2010]. |
Disorder MIM: | |
Disorder Html: | Chronic granulomatous disease due to deficiency of NCF-2, 233710 (3) |