Cytochrome b-245 chaperone 1 (CYBC1)

Cytochrome b-245 chaperone 1 (CYBC1) is a protein chaperone essential for the formation and stable expression of the CYBA and CYBB subunits of the cytochrome b-245 heterodimer, a core component of the phagocyte NADPH oxidase complex[1][2][4][5][6]. CYBC1 localizes mainly to the endoplasmic reticulum and is required for the proper assembly of the NADPH oxidase complex, which catalyzes the production of reactive oxygen species (ROS) by immune cells during the respiratory burst in response to pathogens[2][6][7][8]. Genetic deficiency of CYBC1 results in a distinctive form of chronic granulomatous disease (CGD5), causing impaired ROS production, susceptibility to life-threatening bacterial and fungal infections, and increased risk of inflammatory bowel disease[1][2][7]. No direct therapeutic drugs target CYBC1 at this time; its clinical significance is largely as a genetic cause of primary immunodeficiency and a diagnostic biomarker for CGD[1][2].

Other names

C17orf62EROSEssential for reactive oxygen species proteinCGD5MGC4368FLJ90469uncharacterized protein C17orf62