Aliases for NFKBIA Gene
External Ids for NFKBIA Gene
Previous HGNC Symbols for NFKBIA Gene
Previous GeneCards Identifiers for NFKBIA Gene
This gene encodes a member of the NF-kappa-B inhibitor family, which contain multiple ankrin repeat domains. The encoded protein interacts with REL dimers to inhibit NF-kappa-B/REL complexes which are involved in inflammatory responses. The encoded protein moves between the cytoplasm and the nucleus via a nuclear localization signal and CRM1-mediated nuclear export. Mutations in this gene have been found in ectodermal dysplasia anhidrotic with T-cell immunodeficiency autosomal dominant disease. [provided by RefSeq, Aug 2011]
GeneCards Summary for NFKBIA Gene
NFKBIA (NFKB Inhibitor Alpha) is a Protein Coding gene. Diseases associated with NFKBIA include Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency and Hypohidrotic Ectodermal Dysplasia With Immunodeficiency. Among its related pathways are 4-1BB Pathway and RANK Signaling in Osteoclasts. GO annotations related to this gene include identical protein binding and transcription factor binding. An important paralog of this gene is NFKBIE.
UniProtKB/Swiss-Prot for NFKBIA Gene
Inhibits the activity of dimeric NF-kappa-B/REL complexes by trapping REL dimers in the cytoplasm through masking of their nuclear localization signals. On cellular stimulation by immune and proinflammatory responses, becomes phosphorylated promoting ubiquitination and degradation, enabling the dimeric RELA to translocate to the nucleus and activate transcription.