| Primary Identifier | MGI:1261423 | Organism | mouse, laboratory |
| Chromosome | 1 | NCBI Gene Number | 12370 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables cysteine-type endopeptidase activator activity involved in apoptotic process and cysteine-type endopeptidase activity involved in apoptotic process. Involved in several processes, including circulatory system development; negative regulation of necroptotic process; and proteolysis. Acts upstream of or within several processes, including extrinsic apoptotic signaling pathway via death domain receptors; hepatocyte apoptotic process; and regulation of apoptotic process. Located in cytoplasm; nucleus; and plasma membrane. Part of Noc1p-Noc2p complex. Is expressed in several structures, including brain; early conceptus; gonad; hemolymphoid system; and limb bud. Used to study atopic dermatitis and autoimmune lymphoproliferative syndrome type 2B. Human ortholog(s) of this gene implicated in autoimmune lymphoproliferative syndrome type 2B; breast cancer; endocrine gland cancer (multiple); esophagus adenocarcinoma; and primary immunodeficiency disease. Orthologous to human CASP8 (caspase 8). PHENOTYPE: Homozygotes for a targeted null mutation exhibit impaired cardiac muscle development, cardiac erythrocyte congestion, low numbers of colony-forming cells, and prenatal lethality. T-cell restricted knockout mice are viable, but immunodeficient. Homozygosity for an auto-cleavage deficient allele leads to splenomegaly and decreased apoptosis. [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
