該基因編碼一種在先天性和適應性免疫反應中起核心作用的細胞溶質適配器蛋白。這種蛋白在白細胞介素-1和toll樣受體信號通路中起重要的信號轉導作用。這些途徑調節許多促炎基因的激活。編碼蛋白由一個N端死亡結構域和一個C端toll-interleukin1受體結構域組成。這種基因缺陷的患者對化膿性細菌感染的易感性增加。交替剪接導致多個轉錄變體。
This gene encodes a cytosolic adapter protein that plays a central role in the innate and adaptive immune response. This protein functions as an essential signal transducer in the interleukin-1 and Toll-like receptor signaling pathways. These pathways regulate that activation of numerous proinflammatory genes. The encoded protein consists of an N-terminal death domain and a C-terminal Toll-interleukin1 receptor domain. Patients with defects in this gene have an increased susceptibility to pyogenic bacterial infections. Alternate splicing results in multiple transcript variants.