菜单 基因医生

这个基因编码的蛋白质是肿瘤坏死因子受体超家族的一员。该受体可与多种traf家族蛋白相互作用，诱导nf-kappa b和mapk8/jnk的活化。该受体及其配体是t细胞与树突状细胞相互作用的重要调节因子。该受体也是破骨细胞和淋巴结发育的重要介质。该位点的突变与家族性扩张性骨溶解、常染色体隐性骨岩症和骨paget病有关。另外，已经描述了这个位点的剪接转录变体。[由RefSeq提供，2012年8月]
The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptors can interact with various TRAF family proteins, through which this receptor induces the activation of NF-kappa B and MAPK8/JNK. This receptor and its ligand are important regulators of the interaction between T cells and dendritic cells. This receptor is also an essential mediator for osteoclast and lymph node development. Mutations at this locus have been associated with familial expansile osteolysis, autosomal recessive osteopetrosis, and Paget disease of bone. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Aug 2012]