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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.

Read more about gene names and symbols on the About page.

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 43,758,944 to 43,789,543

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBIThis link leads to a site outside Genetics Home Reference.)

The IRAK4 gene is located on the long (q) arm of chromosome 12 at position 12.

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 43,758,944 to base pair 43,789,543 on chromosome 12.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about IRAK4?

You and your healthcare professional may find the following resources about IRAK4 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the IRAK4 gene or gene products?

  • interleukin-1 receptor-associated kinase 4
  • IPD1
  • IRAK-4
  • NY-REN-64
  • REN64

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding IRAK4?

deficiency ; gene ; immune response ; immune system ; infection ; inflammation ; innate immunity ; kinase ; protein ; receptor

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (6 links)


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 healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

Reviewed: November 2011
Published: February 8, 2016