Gene Symbol | NCF1 |
Entrez Gene ID | 653361 |
Full Name | neutrophil cytosolic factor 1 |
Synonyms | NCF1A,NOXO2,SH3PXD1A,p47phox |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The protein encoded by this gene is a 47 kDa cytosolic subunit of neutrophil NADPH oxidase. This oxidase is a multicomponent enzyme that is activated to produce superoxide anion. Mutations in this gene have been associated with chronic granulomatous disease. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Chronic granulomatous disease due to deficiency of NCF-1, 233700 (3) |