Reviewed November 2011
What is the official name of the IRAK4 gene?
The official name of this gene is “interleukin-1 receptor-associated kinase 4.”
IRAK4 is the gene's official symbol. The IRAK4 gene is also known by other names, listed below.
What is the normal function of the IRAK4 gene?
The IRAK4 gene provides instructions for making a protein that plays an important role in innate immunity, which is the body's early, nonspecific response to foreign invaders (pathogens). The IRAK-4 protein is part of a signaling pathway that is involved in early recognition of pathogens and the initiation of inflammation to fight infection.
In particular, the IRAK-4 protein relays signals from proteins called Toll-like receptors and IL-1 receptor-related proteins. As one of the first lines of defense against infection, Toll-like receptors recognize patterns that are common to many pathogens, rather than recognizing specific pathogens, and stimulate a quick immune response. The IL-1 receptor and related proteins recognize immune system proteins called cytokines that signal the need for an immune response. The resulting signaling pathway triggers inflammation, a nonspecific immune response that helps fight infection.
How are changes in the IRAK4 gene related to health conditions?
- IRAK-4 deficiency - caused by mutations in the IRAK4 gene
At least 20 mutations in the IRAK4 gene have been identified in people with IRAK-4 deficiency, an immune system disorder that leads to recurrent invasive bacterial infections. These gene mutations lead to an abnormally short, nonfunctional IRAK-4 protein or no protein at all. The loss of functional IRAK-4 protein blocks the initiation of inflammation in response to pathogens or cytokines that would normally help fight the infections. Because the early immune response is insufficient, bacterial infections occur often and become severe and invasive.
Where is the IRAK4 gene located?
Cytogenetic Location: 12q12
Molecular Location on chromosome 12: base pairs 43,758,943 to 43,789,542
The IRAK4 gene is located on the long (q) arm of chromosome 12 at position 12.
More precisely, the IRAK4 gene is located from base pair 43,758,943 to base pair 43,789,542 on chromosome 12.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about IRAK4?
You and your healthcare professional may find the following resources about IRAK4 helpful.
Educational resources - Information pages
- Immunobiology: The Immune System in Health and Disease (5th Edition, 2001): A Comparison of the Drosophila and Mammalian Toll Signaling Pathways (http://www.ncbi.nlm.nih.gov/books/NBK27138/figure/A2372/)
- Madame Curie Bioscience Database: The Function of Toll-Like Receptors (http://www.ncbi.nlm.nih.gov/books/NBK6219/)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for IRAK4 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51135%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=%28%28IRAK4%5BTI%5D%29%20OR%20%28interleukin-1%20receptor-associated%20kinase%204%5BTI%5D%29%29%20AND%20%28%28Genes%5BMH%5D%29%20OR%20%28Genetic%20Phenomena%5BMH%5D%29%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203600%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/606883)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_IRAK4.html)
- GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=51135)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=17967)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/51135)
What other names do people use for the IRAK4 gene or gene products?
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding IRAK4?
immune response ;
immune system ;
innate immunity ;
You may find definitions for these and many other terms in the Genetics Home Reference
- OMIM: INTERLEUKIN 1 RECEPTOR-ASSOCIATED KINASE 4 (http://omim.org/entry/606883)
- Li S, Strelow A, Fontana EJ, Wesche H. IRAK-4: a novel member of the IRAK family with the properties of an IRAK-kinase. Proc Natl Acad Sci U S A. 2002 Apr 16;99(8):5567-72. (http://www.ncbi.nlm.nih.gov/pubmed/11960013?dopt=Abstract)
- Medvedev AE, Lentschat A, Kuhns DB, Blanco JC, Salkowski C, Zhang S, Arditi M, Gallin JI, Vogel SN. Distinct mutations in IRAK-4 confer hyporesponsiveness to lipopolysaccharide and interleukin-1 in a patient with recurrent bacterial infections. J Exp Med. 2003 Aug 18;198(4):521-31. (http://www.ncbi.nlm.nih.gov/pubmed/12925671?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/51135)
- Picard C, Puel A, Bonnet M, Ku CL, Bustamante J, Yang K, Soudais C, Dupuis S, Feinberg J, Fieschi C, Elbim C, Hitchcock R, Lammas D, Davies G, Al-Ghonaium A, Al-Rayes H, Al-Jumaah S, Al-Hajjar S, Al-Mohsen IZ, Frayha HH, Rucker R, Hawn TR, Aderem A, Tufenkeji H, Haraguchi S, Day NK, Good RA, Gougerot-Pocidalo MA, Ozinsky A, Casanova JL. Pyogenic bacterial infections in humans with IRAK-4 deficiency. Science. 2003 Mar 28;299(5615):2076-9. Epub 2003 Mar 13. (http://www.ncbi.nlm.nih.gov/pubmed/12637671?dopt=Abstract)
- Suzuki N, Suzuki S, Yeh WC. IRAK-4 as the central TIR signaling mediator in innate immunity. Trends Immunol. 2002 Oct;23(10):503-6. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12297423?dopt=Abstract)
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.