Primary Identifier | MGI:3036243 | Organism | mouse, laboratory |
Chromosome | 17 | NCBI Gene Number | 268973 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables identical protein binding activity. Involved in several processes, including positive regulation of interleukin-1 beta production; pyroptotic inflammatory response; and response to bacterium. Acts upstream of or within regulation of apoptotic process and regulation of cysteine-type endopeptidase activity. Located in cytosol. Part of IPAF inflammasome complex. Used to study familial cold autoinflammatory syndrome 4. Human ortholog(s) of this gene implicated in familial cold autoinflammatory syndrome 4. Orthologous to human NLRC4 (NLR family CARD domain containing 4). PHENOTYPE: Homozygotes for a null allele show lack of caspase-1 activation in macrophages infected with Legionella and Salmonella, and enhanced permissivity to Legionella replication. Homozygotes for another null allele fail to show caspase dependent cell death and IL-1 beta secretion upon Salmonella infection. [provided by MGI curators] |