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. [provided by RefSeq, Feb 2010]
Pathway
AGE/RAGE pathway; Activated TLR4 signalling; African trypanosomiasis; Apoptosis; Apoptosis Modulation and Signaling; Chagas disease (American trypanosomiasis); Cytokine Signaling in Immune system; Cytosolic sensors of pathogen-associated DNA
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