MYD88 (Myeloid Differentiation Primary Response 88) is a Protein Coding gene. Diseases associated with MYD88 include myd88 deficiency and macroglobulinemia, waldenstrom 1. Among its related pathways are Signaling by GPCR and Immune System. GO annotations related to this gene include identical protein binding and death receptor binding. 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.
Legionella pneumophila are Gram-negative bacteria which are associated with Legionnaires" disease and Pontiac fever. At least 14 different serovars of L. pneumophila have been described as well as several other species being subdivided into a number of serovars. MYD88 deficiency (MYD88D) [MIM:612260]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry. Note=Defects in MYD88 are frequently found in many hematological malignancies, such as activated B-cell type diffuse large B-cell lymphoma (ABC-DLBCL), Waldenstroems macroglobulinemia, cutaneous diffuse large B cell lymphoma (CBCL) and primary central nervous system lymphoma (PCNSL). Myeloid differentiation primary response gene 88 (MYD88) is a protein that, in humans, is encoded by the MYD88 gene. The human ortholog MYD88 seems to function similarly to mice, since the immunological phenotype of human cells deficient in MYD88 is similar to cells from MyD88 deficient mice. However, available evidence suggests that MYD88 is dispensable for human resistance to common viral infections and to all but a few pyogenic bacterial infections, demonstrating a major difference between mouse and human immune responses. Mutation in MYD88 at position 265 leading to a change from leucine to proline have been identified in many human lymphomas including ABC subtype of Diffuse Large B-cell Lymphoma and Waldenstroms Macroglobulinemia. The function about MYD88 antigen include TIR domain binding;Toll binding;identical protein binding;interleukin-1 receptor binding;protein binding.
African trypanosomiasis, organism-specific biosystem; African trypanosomiasis, conserved biosystem; Apoptosis, organism-specific biosystem; Apoptosis, conserved biosystem; Apoptosis signaling pathway, organism-specific biosystem; Chagas disease (American trypa.