Primary Identifier | MGI:1891436 | Organism | mouse, laboratory |
Chromosome | X | NCBI Gene Number | 20371 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables several functions, including RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; identical protein binding activity; and transcription corepressor activity. Involved in negative regulation of cytokine production and regulation of T cell anergy. Acts upstream of or within several processes, including positive regulation of T cell tolerance induction; regulation of T cell activation; and regulation of gene expression. Located in cytoplasm and nucleus. Is expressed in central nervous system; genitourinary system; hemolymphoid system; and retina. Used to study Wiskott-Aldrich syndrome and immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome. Human ortholog(s) of this gene implicated in Human papillomavirus infectious disease; colorectal cancer; immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome; pulmonary tuberculosis; and type 1 diabetes mellitus. Orthologous to human FOXP3 (forkhead box P3). PHENOTYPE: Hemizygous mutant males exhibit scaly skin, reddening and swelling of genital papilla, small undescended testes, depressed platelet and red cell counts, and lymphohistiocytic proliferation in various organs. Mutants die around weaning age. [provided by MGI curators] |