菜单 基因医生

这个基因是肿瘤坏死因子受体超家族的成员编码蛋白是免疫系统抗原递呈细胞上的受体，对介导多种免疫和炎症反应，包括t细胞依赖性免疫球蛋白类转换、记忆b细胞发育和生发中心形成至关重要。at-hook转录因子akna被报道协调地调节该受体及其配体的表达，这可能对同型细胞的相互作用很重要。衔接蛋白tnfr2与该受体相互作用，并作为信号转导的介质。这种受体及其配体的相互作用是淀粉样β诱导小胶质细胞活化的必要条件，因此被认为是阿尔茨海默病发病的早期事件。影响该基因的突变是常染色体隐性高IgM免疫缺陷3型（HIGM3）的原因已经报道了该基因编码不同亚型的多个选择性剪接转录变体。[由RefSeq提供，2014年11月]
This gene is a member of the TNF-receptor superfamily. The encoded protein is a receptor on antigen-presenting cells of the immune system and is essential for mediating a broad variety of immune and inflammatory responses including T cell-dependent immunoglobulin class switching, memory B cell development, and germinal center formation. AT-hook transcription factor AKNA is reported to coordinately regulate the expression of this receptor and its ligand, which may be important for homotypic cell interactions. Adaptor protein TNFR2 interacts with this receptor and serves as a mediator of the signal transduction. The interaction of this receptor and its ligand is found to be necessary for amyloid-beta-induced microglial activation, and thus is thought to be an early event in Alzheimer disease pathogenesis. Mutations affecting this gene are the cause of autosomal recessive hyper-IgM immunodeficiency type 3 (HIGM3). Multiple alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Nov 2014]