Primary Identifier | MGI:104741 | Organism | mouse, laboratory |
Chromosome | 12 | NCBI Gene Number | 18035 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0) Enables transcription regulator inhibitor activity. Involved in B cell receptor signaling pathway; negative regulation of canonical NF-kappaB signal transduction; and positive regulation of transcription initiation by RNA polymerase II. Acts upstream of or within several processes, including lipopolysaccharide-mediated signaling pathway; negative regulation of Notch signaling pathway; and pattern recognition receptor signaling pathway. Located in cytosol and nucleus. Is expressed in several structures, including alimentary system; central nervous system; early conceptus; genitourinary system; and naris. Used to study Sjogren's syndrome and atopic dermatitis. Human ortholog(s) of this gene implicated in several diseases, including childhood-onset asthma; ectodermal dysplasia and immunodeficiency 2; hematologic cancer (multiple); hepatitis B; and lung disease (multiple). Orthologous to human NFKBIA (NFKB inhibitor alpha). PHENOTYPE: Mice homozygous for disruptions in this gene die at about 1 week of age experiencing abnormalities in the immune system. Mice homozygous for an allele disrupting the N-terminal nuclear export signal exhibit impaired B cell maturation, decreased CD4+ memory T cells, and decreased regulatory T cells. [provided by MGI curators] |