CYBB

CYBB (Cytochrome B-245 Beta Chain) is a Protein Coding gene. Diseases associated with CYBB include Immunodeficiency 34 and Granulomatous Disease, Chronic, X-Linked. Among its related pathways are Innate Immune System and RET signaling. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity and heme binding. An important paralog of this gene is NOX1.

CYBB

Critical component of the membrane-bound oxidase of phagocytes that generates superoxide. It is the terminal component of a respiratory chain that transfers single electrons from cytoplasmic NADPH across the plasma membrane to molecular oxygen on the exterior. Also functions as a voltage-gated proton channel that mediates the H+ currents of resting phagocytes. It participates in the regulation of cellular pH and is blocked by zinc.

Antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent Source: Reactome
Cell redox homeostasis Source: Reactome
Cellular response to cadmium ion Source: Ensembl
Cellular response to ethanol Source: Ensembl
Cellular response to L-glutamine Source: Ensembl
Cellular response to oxidative stress Source: Reactome
Defense response Source: GO_Central
Electron transport chain Source: GOC
Hypoxia-inducible factor-1alpha signaling pathway Source: Ensembl
Inflammatory response Source: UniProtKB
Innate immune response Source: BHF-UCL
Neutrophil degranulation Source: Reactome
Positive regulation of angiogenesis Source: Ensembl
Positive regulation of tumor necrosis factor production Source: Ensembl
Regulation of ion transmembrane transport Source: UniProtKB-KW
Respiratory burst Source: BHF-UCL
Response to aldosterone Source: Ensembl
Response to angiotensin Source: Ensembl
Response to drug Source: Ensembl
Response to nutrient Source: Ensembl
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, X-linked (CGD):
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.
Immunodeficiency 34 (IMD34):
A form of Mendelian susceptibility to mycobacterial disease, a rare condition characterized by predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine, environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections, with the exception of Salmonella which infects less than 50% of these individuals.

Cytoplasmic: 2-8
Helical: 9-29
Extracellular: 30-48
Helical: 49-69
Cytoplasmic: 70-102
Helical: 103-123
Extracellular: 124-169
Helical: 170-190
Cytoplasmic: 191-200
Helical: 201-221
Extracellular: 222-261
Helical: 262-282
Cytoplasmic: 283-570

Glycosylated.
Phosphorylated on Ser and Thr residues.
Undergoes 'Lys-48'-linked polyubiquitination, likely by RNF145, triggering endoplasmic reticulum-associated degradation.