The PX domain mediates interaction with phosphatidylinositol 3,4-bisphosphate and other anionic phospholipids. In the autoinhibited, unphosphorylated state an intramolecular interaction with the C-terminal SH3 domain precludes phospholipid binding and interaction with CYBA. Phosphorylation disrupts the autoinhibited state.
NCF2, NCF1, and a membrane bound cytochrome b558 are required for activation of the latent NADPH oxidase (necessary for superoxide production).
Granulomatous disease, chronic, autosomal recessive, 1
CGD1
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.
Phosphorylated by PRKCD; phosphorylation induces activation of NCF1 and NADPH oxidase activity.
Detected in peripheral blood monocytes and neutrophils (at protein level).
NOXO2, SH3PXD1A, NCF1, Neutrophil cytosol factor 1, NCF-1, 47 kDa autosomal chronic granulomatous disease protein, 47 kDa neutrophil oxidase factor, NCF-47K, Neutrophil NADPH oxidase factor 1, Nox organizer 2, Nox-organizing protein 2, SH3 and PX domain-containing protein 1A, p47-phox
Proteins
Immunology & Infectious Disease
44682Da
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