| Primary Identifier | MGI:1338803 | Organism | mouse, laboratory |
| Chromosome | 10 | NCBI Gene Number | 11634 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables identical protein binding activity. Involved in immune system development; positive regulation of chemokine production; and regulation of thymocyte migration. Acts upstream of or within humoral immune response; negative thymic T cell selection; and positive regulation of transcription by RNA polymerase II. Located in cytoplasm; germ cell nucleus; and nuclear body. Is expressed in several structures, including alimentary system; genitourinary system; hemolymphoid system; nervous system; and sensory organ. Used to study Guillain-Barre syndrome; Sjogren's syndrome; and autoimmune polyendocrine syndrome type 1. Human ortholog(s) of this gene implicated in autoimmune polyendocrine syndrome and autoimmune polyendocrine syndrome type 1. Orthologous to human AIRE (autoimmune regulator). PHENOTYPE: Targeted mutations that inactivate the gene result in immune system dysfunction characterized by multiorgan lymphocytic infiltration and circulating autoantibodies. Whereas one line is fertile, another exhibits male and female sterility. [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
