| Primary Identifier | MGI:1859396 | Organism | mouse, laboratory |
| Chromosome | 16 | NCBI Gene Number | 54483 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable actin binding activity; identical protein binding activity; and ubiquitin protein ligase activity. Involved in positive regulation of inflammatory response and positive regulation of interleukin-1 beta production. Predicted to be located in nucleus. Predicted to be part of canonical inflammasome complex and microtubule associated complex. Predicted to be active in cytosol and nucleoplasm. Is expressed in bladder; central nervous system; female associated reproductive structure; ureter; and urethra of female. Used to study familial Mediterranean fever. Human ortholog(s) of this gene implicated in several diseases, including Henoch-Schoenlein purpura; Sweet syndrome; asthma; familial Mediterranean fever; and hematologic cancer (multiple). Orthologous to human MEFV (MEFV innate immunity regulator, pyrin). PHENOTYPE: Homozygous null mice develop normally but show increased susceptibilty to infection. Mice homozygous for another knock-out allele exhibit increased macrophage secretion of IL1b and Il18 following stimulation. [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
