Cytochrome b-245 light chain
Function
Critical component of the membrane-bound oxidase of phagocytes that generates superoxide. Associates with NOX3 to form a functional NADPH oxidase constitutively generating superoxide.
Involvement in disease
Granulomatous disease, chronic, autosomal recessive, 4
CGD4
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.
Post-translational modifications
The heme prosthetic group could be coordinated with residues of the light chain, the heavy chain, or both, and it is possible that more than one heme is present per cytochrome b-245.
Phosphorylation at Thr-147 enhances NADPH oxidase activity by promoting p47phox binding.
Ubiquitinated at Lys-149 likely by RNF145.
Sequence Similarities
Belongs to the p22phox family.
Cellular localization
- Cell membrane
- As unassembled monomer may localize to the endoplasmic reticulum.
Alternative names
Cytochrome b-245 light chain, Cytochrome b(558) alpha chain, Cytochrome b558 subunit alpha, Neutrophil cytochrome b 22 kDa polypeptide, Superoxide-generating NADPH oxidase light chain subunit, p22 phagocyte B-cytochrome, p22-phox, p22phox, CYBA