CYBC1

CYBC1

Functions as a chaperone necessary for a stable expression of the CYBA and CYBB subunits of the cytochrome b-245 heterodimer (PubMed:30361506).

Controls the phagocyte respiratory burst and is essential for innate immunity (By similarity).

Innate immune response Source: UniProtKB
Respiratory burst after phagocytosis Source: UniProtKB

Endoplasmic reticulum membrane

Granulomatous disease, chronic, autosomal recessive, 5 (CGD5):
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. CGD5 is an autosomal recessive form characterized by onset of recurrent infections and severe colitis in the first decade of life. Clinical manifestations include increased susceptibility to catalase-positive organisms, features of inflammatory bowel disease, lymphopenia, lymphadenitis, and autoinflammatory symptoms in some patients.

Helical: 20-42