Aliases for NCF2 Gene
External Ids for NCF2 Gene
Previous GeneCards Identifiers for NCF2 Gene
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]
GeneCards Summary for NCF2 Gene
NCF2 (Neutrophil Cytosolic Factor 2) is a Protein Coding gene. Diseases associated with NCF2 include Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii and Chronic Granulomatous Disease. Among its related pathways are Class I MHC mediated antigen processing and presentation and Signaling by Rho GTPases. Gene Ontology (GO) annotations related to this gene include protein C-terminus binding and Rac GTPase binding. An important paralog of this gene is NOXA1.
UniProtKB/Swiss-Prot for NCF2 Gene
NCF2, NCF1, and a membrane bound cytochrome b558 are required for activation of the latent NADPH oxidase (necessary for superoxide production).