Statements (20)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
SH3PXD1A
p47-phox |
| gptkbp:associatedWith |
gptkb:chronic_granulomatous_disease
|
| gptkbp:encodes |
p47phox protein
|
| gptkbp:Entrez_Gene_ID |
653361
|
| gptkbp:expressedIn |
neutrophils
|
| gptkbp:fullName |
neutrophil cytosolic factor 1
|
| gptkbp:function |
regulation of superoxide production in phagocytes
|
| gptkbp:HGNC_ID |
7667
|
| https://www.w3.org/2000/01/rdf-schema#label |
NCF1
|
| gptkbp:involvedIn |
gptkb:NADPH_oxidase_complex
|
| gptkbp:locatedOnChromosome |
7q11.23
|
| gptkbp:mutationAssociatedWith |
autosomal recessive chronic granulomatous disease
|
| gptkbp:OMIM |
233700
|
| gptkbp:orthologInMouse |
Ncf1
|
| gptkbp:UniProtID |
P14598
|
| gptkbp:bfsParent |
gptkb:chronic_granulomatous_disease
gptkb:Chronic_Granulomatous_Disease |
| gptkbp:bfsLayer |
7
|