MYD88 Chromosome 3
MYD88 innate immune signal transduction adaptor
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What This Gene Does
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]
Gene Info
Gene Group
"TIR domain containing|My-T-BRC complex"
Locus Type
gene with protein product
Location
3p22.2
Ensembl
ENSG00000172936
Associated Conditions (2)
Pyogenic bacterial infections due to MyD88 deficiency
MYD88-related disorder
Key Variants
RS746651350
Conflicting classifications of pathogenicity
Pyogenic bacterial infections due to MyD88 deficiency, MYD88-related disorder, Pyogenic bacterial infections due to MyD88 deficiency
Health Risk
RS776336832
Conflicting classifications of pathogenicity
Pyogenic bacterial infections due to MyD88 deficiency, Pyogenic bacterial infections due to MyD88 deficiency
Health Risk
RS2125777824
Likely pathogenic
Pyogenic bacterial infections due to MyD88 deficiency, Pyogenic bacterial infections due to MyD88 deficiency
Health Risk
RS137853065
Pathogenic
Pyogenic bacterial infections due to MyD88 deficiency, Pyogenic bacterial infections due to MyD88 deficiency
Health Risk
RS2471593660
Pathogenic
Pyogenic bacterial infections due to MyD88 deficiency, Pyogenic bacterial infections due to MyD88 deficiency
Health Risk
RS765198848
Pathogenic
Pyogenic bacterial infections due to MyD88 deficiency, Pyogenic bacterial infections due to MyD88 deficiency
Health Risk
RS878852993
Pathogenic/Likely pathogenic
Pyogenic bacterial infections due to MyD88 deficiency, Pyogenic bacterial infections due to MyD88 deficiency
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS746651350 | Health Risk | Conflicting classifications of pathogenicity | Pyogenic bacterial infections due to MyD88 deficiency, MYD88-related disorder, Pyogenic bacterial infections due to MyD88 deficiency |
| RS776336832 | Health Risk | Conflicting classifications of pathogenicity | Pyogenic bacterial infections due to MyD88 deficiency, Pyogenic bacterial infections due to MyD88 deficiency |
| RS2125777824 | Health Risk | Likely pathogenic | Pyogenic bacterial infections due to MyD88 deficiency, Pyogenic bacterial infections due to MyD88 deficiency |
| RS137853065 | Health Risk | Pathogenic | Pyogenic bacterial infections due to MyD88 deficiency, Pyogenic bacterial infections due to MyD88 deficiency |
| RS2471593660 | Health Risk | Pathogenic | Pyogenic bacterial infections due to MyD88 deficiency, Pyogenic bacterial infections due to MyD88 deficiency |
| RS765198848 | Health Risk | Pathogenic | Pyogenic bacterial infections due to MyD88 deficiency, Pyogenic bacterial infections due to MyD88 deficiency |
| RS878852993 | Health Risk | Pathogenic/Likely pathogenic | Pyogenic bacterial infections due to MyD88 deficiency, Pyogenic bacterial infections due to MyD88 deficiency |