MYD88, Myeloid differentiation primary response protein MyD88
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],disease:Defects in MYD88 are the cause of MYD88 deficiency (MYD88D) [MIM:612260], also called recurrent pyogenic bacterial infections due to MYD88 deficiency. Patients suffer from autosomal recessive, life-threatening, often recurrent pyogenic bacterial infections, including invasive pneumococcal disease, and die between 1 and 11 months of age. Surviving patients are otherwise healthy, with normal resistance to other microbes, and their clinical status improved with age.,function:Adapter protein involved in the Toll-like receptor and IL-1 receptor signaling pathway in the innate immune response. Acts via IRAK1, IRAK2 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response. Increases IL-8 transcription. May be involved in myeloid differentiation.,similarity:Contains 1 death domain.,similarity:Contains 1 TIR domain.,subunit:Homodimer. Also forms heterodimers with TIRAP. Binds to TLR2, TLR4, IRAK1 and IRAK2 via their respective TIR domains. Interacts with IL1RL1.,tissue specificity:Ubiquitous.,
