Primary Identifier | MGI:96544 | Organism | mouse, laboratory |
Chromosome | 9 | NCBI Gene Number | 12362 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables cysteine-type endopeptidase activity. Involved in several processes, including AIM2 inflammasome complex assembly; positive regulation of canonical NF-kappaB signal transduction; and positive regulation of interleukin-1 beta production. Acts upstream of or within several processes, including membrane hyperpolarization; mitochondrial depolarization; and positive regulation of cytokine production. Located in extracellular region. Part of IPAF inflammasome complex. Is active in cytosol. Is expressed in several structures, including forelimb mesenchyme; knee joint; oocyte; small intestine; and telencephalon. Orthologous to human CASP1 (caspase 1). PHENOTYPE: Homozygous targeted mutants fail to produce mature IL1A and IL1B and are resistant to LPS-induced endotoxin shock and to FAS antibody-induced apoptosis. Another KO allele, in both homozygous and heterozygous state, protects against diabetic nephropathy. [provided by MGI curators] |