CYBA

CYBA (Cytochrome B-245 Alpha Chain) is a Protein Coding gene. Diseases associated with CYBA include Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative and Chronic Granulomatous Disease. Among its related pathways are Innate Immune System and RET signaling. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity and SH3 domain binding.

Cytochrome B-245 Alpha Chain

Critical component of the membrane-bound oxidase of phagocytes that generates superoxide. Associates with NOX3 to form a functional NADPH oxidase constitutively generating superoxide.

Antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent Source: Reactome
Cell redox homeostasis Source: Reactome
Cellular response to oxidative stress Source: Reactome
Cytochrome complex assembly Source: BHF-UCL
Hydrogen peroxide biosynthetic process Source: BHF-UCL
Inflammatory response Source: BHF-UCL
Innate immune response Source: BHF-UCL
Neutrophil degranulation Source: Reactome
Positive regulation of cell killing Source: Reactome
Positive regulation of defense response to bacterium Source: UniProtKB
Positive regulation of interleukin-6 production Source: UniProtKB
Positive regulation of phagocytosis Source: UniProtKB
Positive regulation of reactive oxygen species biosynthetic process Source: UniProtKB
Positive regulation of toll-like receptor 2 signaling pathway Source: UniProtKB
Positive regulation of tumor necrosis factor production Source: UniProtKB
Respiratory burst Source: BHF-UCL
Smooth muscle hypertrophy Source: BHF-UCL
Superoxide anion generation Source: BHF-UCL
Superoxide metabolic process Source: BHF-UCL
Vascular endothelial growth factor receptor signaling pathway Source: Reactome

Cell membrane. As unassembled monomer may localize to the endoplasmic reticulum.

Granulomatous disease, chronic, cytochrome-b-negative, autosomal recessive (ARCGD):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.

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.