rs1262581372
This variant is located in the NFKBIA gene.
▶ClinVar annotation
Ectodermal dysplasia and immunodeficiency 2
View on ClinVar →About NFKBIA
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]
View all NFKBIA variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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