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| http://www.biopax.org/relea... | |
| http://www.biopax.org/relea... |
Myeloid differentiation primary response protein MyD88
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| http://www.biopax.org/relea... |
MYD88_HUMAN
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| http://www.biopax.org/relea... | |
| http://www.biopax.org/relea... |
FUNCTION: Adapter protein involved in the Toll-like receptor and IL-1 receptor signaling pathway in the innate immune response. Acts via IRAK1, IRAK2, IRF7 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response. Increases IL-8 transcription. Involved in IL-18-mediated signaling pathway. SUBUNIT: Homodimer. Also forms heterodimers with TIRAP. Binds to TLR2, TLR4, IRAK1, IRAK2 and IRAK4 via their respective TIR domains. Interacts with IL18R1 (By similarity). Interacts with IL1RL1. Interacts with IRF7. SUBCELLULAR LOCATION: Cytoplasm. ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q99836-1; Sequence=Displayed; Name=2; IsoId=Q99836-2; Sequence=VSP_038887; Note=No experimental confirmation available; TISSUE SPECIFICITY: Ubiquitous. DOMAIN: The intermediate domain (ID) is required for the phosphorylation and activation of IRAK (By similarity). DISEASE: Defects in MYD88 are the cause of MYD88 deficiency (MYD88D) [MIM:612260]; also known as 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. SIMILARITY: Contains 1 death domain. SIMILARITY: Contains 1 TIR domain. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.
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