Gene Symbol | MYD88 |
Entrez Gene ID | 4615 |
Full Name | myeloid differentiation primary response 88 |
Synonyms | MYD88D |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Pyogenic bacterial infections, recurrent, due to MYD88 deficiency, 612260 (3); Macroglobulinemia, Waldenstrom, somatic, 153600 (3) |