菜单 基因医生

该基因编码NF-Kappa-B抑制剂家族的一个成员，该家族包含多个Ankrin重复结构域。编码蛋白与rel二聚体相互作用，抑制参与炎症反应的nf-kappa-b/rel复合物。编码蛋白通过核定位信号和crm1介导的核输出在细胞质和细胞核之间移动。在外胚层发育不良伴T细胞免疫缺陷常染色体显性遗传病的无汗症患者中发现了该基因的突变。[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]