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  • 發布時間:2022-08-02 10:28 原文鏈接: NFKBIA基因突變與藥物因子介紹

    該基因編碼NF-Kappa-B抑制劑家族的一個成員,該家族包含多個Ankrin重復結構域。編碼蛋白與rel二聚體相互作用,抑制參與炎癥反應的nf-kappa-b/rel復合物。編碼蛋白通過核定位信號和crm1介導的核輸出在細胞質和細胞核之間移動。在外胚層發育不良伴T細胞免疫缺陷常染色體顯性遺傳病的無汗癥患者中發現了該基因的突變。[由RefSeq提供,2011年8月]
    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]

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