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Protein Coding Gene : Nfkbia nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, alpha

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]
  • synonyms:
  • nuclear factor of kappa light chain gene enhancer in B-cells inhibitor,
  • expressed sequence AI462015,
  • Nfkbia,
  • I-kappaBalpha,
  • AI462015,
  • Nfkbi,
  • IkappaBalpha,
  • nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, alpha,
  • I(Kappa)B(alpha),
  • MGI:2144835,
  • MGD-MRK-28032,
  • MGD-MRK-12830

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1 Involved In Mutations

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