| Primary Identifier | MGI:109186 | Organism | mouse, laboratory |
| Chromosome | 15 | NCBI Gene Number | 17972 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Predicted to enable phosphatidylinositol-3-phosphate binding activity and superoxide-generating NADPH oxidase activator activity. Predicted to be involved in superoxide anion generation. Located in cytoplasm. Is expressed in liver; lower urinary tract; stomach; and testis. Human ortholog(s) of this gene implicated in autosomal recessive chronic granulomatous disease 3 and rheumatoid arthritis. Orthologous to human NCF4 (neutrophil cytosolic factor 4). PHENOTYPE: Mice homozygous for a null allele are viable but show impaired NADPH oxidase responses of neutrophils to a variety of stimuli and defective killing of S. aureus in vitro and in vivo. Homozygotes for a knock-in allele that prevents PtdIns3P binding to thePX domain fail in development prior to E10. [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
