NFKBIA (NFKB inhibitor alpha) is a protein-coding gene located on chromosome 14q13.2. The gene encodes a member of the NF-kappa-B inhibitor family that contains multiple ankrin repeat domains. The encoded protein interacts with REL dimers to inhibit NF-kappa-B/REL complexes involved in inflammatory responses. It moves between the cytoplasm and nucleus via a nuclear localization signal and CRM1-mediated nuclear export. Upon cellular stimulation by immunological and proinflammatory responses, it is phosphorylated, promoting ubiquitination and degradation. This allows dimeric RELA to migrate into the nucleus and activate transcription.
NFKBIA Gene
DefinitionThis section has been translated automatically.
General informationThis section has been translated automatically.
Mutations in this gene have been found in the autosomal dominant disease ectodermal dysplasia, anhidrotic with T cell immunodeficiency.
Diseases associated with NFKBIA include:
- Autosomal-dominant anhidrotic ectodermal dysplasia with T-cell immunodeficiency (Ectodermal Dysplasia and Immunodeficiency 2).
LiteratureThis section has been translated automatically.
- Boisson B et al. (2017) Human I-kappa-B-alpha gain of function: a severe and syndromic immunodeficiency. J Clin Immun 37: 397-412.
- Courtois G et al (2003) A hypermorphic I-kappa-B-alpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency. J Clin Invest 112: 1108-1115.
- McDonald DR et al (2007) Heterozygous N-terminal deletion of I-kappa-B-alpha results in functional nuclear factor kappa-B haploinsufficiency, ectodermal dysplasia, and immune deficiency. J Allergy Clin Immun 120: 900-907.