Statements (27)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:alternativeName |
gptkb:NOX2
gptkb:gp91phox gptkb:phagocyte_oxidase |
gptkbp:associatedWith |
gptkb:chronic_granulomatous_disease
|
gptkbp:discoveredBy |
1987
|
gptkbp:encodes |
gptkb:NADPH_oxidase_2_(NOX2)
|
gptkbp:Entrez_Gene_ID |
1536
ENSG00000165168 |
gptkbp:expressedIn |
phagocytes
|
gptkbp:fullName |
gptkb:cytochrome_b-245_beta_chain
|
gptkbp:function |
catalyzes the reduction of oxygen to superoxide in phagocytes
|
gptkbp:geneType |
protein-coding
|
gptkbp:HGNC_ID |
HGNC:2567
|
https://www.w3.org/2000/01/rdf-schema#label |
CYBB
|
gptkbp:inheritance |
X-linked
|
gptkbp:locatedOnChromosome |
X
|
gptkbp:location |
gptkb:Xp21.1
|
gptkbp:mutationAssociatedWith |
impaired respiratory burst
|
gptkbp:OMIM |
300481
|
gptkbp:organism |
gptkb:Homo_sapiens
|
gptkbp:orthologInMouse |
gptkb:Cybb
|
gptkbp:pathway |
innate immune response
reactive oxygen species generation |
gptkbp:UniProtID |
P04839
|
gptkbp:bfsParent |
gptkb:Kugaaruk_Airport
|
gptkbp:bfsLayer |
6
|