Primary Identifier | MGI:108445 | Organism | mouse, laboratory |
Chromosome | 16 | NCBI Gene Number | 12265 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable DNA-binding transcription factor binding activity and transcription cis-regulatory region binding activity. Involved in positive regulation of transcription by RNA polymerase II and response to type II interferon. Acts upstream of or within negative regulation of DNA-templated transcription. Predicted to be located in PML body; cell surface; and cytosol. Is expressed in bladder; central nervous system; and retina. Used to study MHC class II deficiency and osteoporosis. Human ortholog(s) of this gene implicated in Addison's disease; MHC class II deficiency; autoimmune disease (multiple); and myocardial infarction. Orthologous to human CIITA (class II major histocompatibility complex transactivator). PHENOTYPE: Homozygous targeted mutants are immunologically abnormal with extremely little MHC class II expression, greatly reduced serum IgG, and impaired T-dependent antigen responses. [provided by MGI curators] |