Gene Symbol | IRAK4 |
Entrez Gene ID | 51135 |
Full Name | interleukin 1 receptor associated kinase 4 |
Synonyms | IPD1,IRAK-4,NY-REN-64,REN64 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a kinase that activates NF-kappaB in both the Toll-like receptor (TLR) and T-cell receptor (TCR) signaling pathways. The protein is essential for most innate immune responses. Mutations in this gene result in IRAK4 deficiency and recurrent invasive pneumococcal disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]. |
Disorder MIM: | |
Disorder Html: | IRAK4 deficiency, 607676 (3); Invasive pneumococcal disease, recurrent isolated, 1, 610799 (3) |