CYBC1
Function
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).
Involvement in disease
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the CYBC1 family.
Tissue Specificity
Highly expressed in macrophages, neutrophils and monocytes.
Cellular localization
- Endoplasmic reticulum membrane
- Single-pass membrane protein
Alternative names
C17orf62, EROS, CYBC1, Cytochrome b-245 chaperone 1, Essential for reactive oxygen species protein, Eros