| Primary Identifier | MGI:95484 | Organism | mouse, laboratory |
| Chromosome | 19 | NCBI Gene Number | 14102 |
| 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 circadian rhythm; extrinsic apoptotic signaling pathway via death domain receptors; and positive regulation of protein-containing complex assembly. Acts upstream of or within several processes, including activation-induced cell death of T cells; cellular response to lithium ion; and regulation of hemopoiesis. Located in external side of plasma membrane and extracellular region. Part of CD95 death-inducing signaling complex. Is expressed in several structures, including alimentary system; brain; genitourinary system; hemolymphoid system gland; and limb segment. Used to study Sjogren's syndrome; autoimmune lymphoproliferative syndrome; and systemic lupus erythematosus. Human ortholog(s) of this gene implicated in several diseases, including autoimmune disease (multiple); cystic fibrosis; hematologic cancer (multiple); pre-eclampsia (multiple); and urinary system cancer (multiple). Orthologous to human FAS (Fas cell surface death receptor). PHENOTYPE: Mutations in this locus affect immune function and homozygotes show varying severity of lymphadenopathy, splenomegaly, lymphocytic infiltrations, elevated immunoglobulin levels, autoantibodies, impaired clonal deletion of T cells, and lupus-like disease. [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
