| Primary Identifier | MGI:97283 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 17969 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables superoxide-generating NADPH oxidase activator activity. Acts upstream of or within several processes, including cellular defense response; hydrogen peroxide biosynthetic process; and neutrophil-mediated killing of symbiont cell. Located in cytoplasm and membrane. Is expressed in several structures, including alimentary system; brain; genitourinary system; integumental system; and sensory organ. Used to study chronic granulomatous disease and rheumatoid arthritis. Human ortholog(s) of this gene implicated in Williams-Beuren syndrome; autosomal recessive chronic granulomatous disease 1; and chronic granulomatous disease. Orthologous to several human genes including NCF1 (neutrophil cytosolic factor 1). PHENOTYPE: Homozygous disruption of this gene causes severe spontaneous infections and granulomatous inflammation and may alter synaptic plasticity and memory, RAS activation, blood pressure control, airway smooth muscle function, neointima formation, vasoconstriction and the response to myocardial infarction. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
