Primary Identifier | MGI:97897 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 19696 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables DNA-binding transcription factor activity. Acts upstream of or within positive regulation of DNA-templated transcription and positive regulation of interleukin-12 production. Located in cytoplasm and nucleus. Is expressed in central nervous system; eye; genitourinary system; heart; and spleen primordium. Human ortholog(s) of this gene implicated in primary immunodeficiency disease. Orthologous to human REL (REL proto-oncogene, NF-kB subunit). PHENOTYPE: Homozygous inactivation of this gene causes defects in lymphocyte proliferation, humoral immunity and cytokine production, and may lead to impaired Th1 responses and resistance to autoimmune disease. Mice lacking only the COOH-terminal region show severehemopoietic defects and lymphoid hyperplasia. [provided by MGI curators] |