| Primary Identifier | MGI:97284 | Organism | mouse, laboratory |
| Chromosome | 1 | NCBI Gene Number | 17970 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables small GTPase binding activity. Contributes to superoxide-generating NAD(P)H oxidase activity. Acts upstream of or within superoxide anion generation. Located in acrosomal vesicle. Is expressed in several structures, including hemolymphoid system; limb; and liver. Human ortholog(s) of this gene implicated in Alzheimer's disease; autosomal recessive chronic granulomatous disease 2; and rheumatoid arthritis. Orthologous to human NCF2 (neutrophil cytosolic factor 2). PHENOTYPE: Homozygotes for a null allele on a C57BL/6 background show increased susceptibility to A. fumigatus-induced pneumonia but do not develop systemic lupus. In contrast, homozygotes and even heterozygotes on a NZM 2328 background develop accelerated full-blown lupus with rapid lupus kidney disease. [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
