| Primary Identifier | MGI:2653833 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 216799 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables several functions, including ATP hydrolysis activity; phosphatidylinositol-4-phosphate binding activity; and signaling adaptor activity. Involved in several processes, including positive regulation of immune response; positive regulation of macromolecule biosynthetic process; and response to bacterium. Acts upstream of or within acute inflammatory response; defense response to virus; and regulation of inflammatory response. Located in several cellular components, including interphase microtubule organizing center; mitochondrion; and nucleus. Part of NLRP3 inflammasome complex. Is expressed in central nervous system and retina. Used to study CINCA Syndrome; familial cold autoinflammatory syndrome 1; and metabolic dysfunction-associated steatotic liver disease. Human ortholog(s) of this gene implicated in CINCA Syndrome; Muckle-Wells syndrome; autosomal dominant nonsyndromic deafness 34; familial cold autoinflammatory syndrome 1; and urticaria. Orthologous to human NLRP3 (NLR family pyrin domain containing 3). PHENOTYPE: Mice homozygous for null mutations exhibit attenuated inflammatory responses related to decrease secretion of IL-1beta and IL-18. Mice heterozygous for activating mutations suffer from autoinflammatory attacks that lead to organ failure and death before weaning. [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
