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NCF2

Domain

The OPR/PB1 domain mediates the association with NCF4/p40-PHOX.

Function

NCF2, NCF1, and a membrane bound cytochrome b558 are required for activation of the latent NADPH oxidase (necessary for superoxide production).

Involvement in disease

Granulomatous disease, chronic, autosomal recessive, 2

CGD2

A form of chronic granulomatous disease, a primary immunodeficiency characterized by severe recurrent bacterial and fungal infections, along with manifestations of chronic granulomatous inflammation. It results from an impaired ability of phagocytes to mount a burst of reactive oxygen species in response to pathogens.

None

The disease is caused by variants affecting the gene represented in this entry.

Sequence Similarities

Belongs to the NCF2/NOXA1 family.

Cellular localization

Alternative names

NOXA2, P67PHOX, NCF2, Neutrophil cytosol factor 2, NCF-2, 67 kDa neutrophil oxidase factor, NADPH oxidase activator 2, Neutrophil NADPH oxidase factor 2, p67-phox

swissprot:P19878 entrezGene:4688 omim:608515