Gene Symbol | NFKBIA |
Entrez Gene ID | 4792 |
Full Name | NFKB inhibitor alpha |
Synonyms | IKBA,MAD-3,NFKBI |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, 612132 (3) |