IL3RA

Interleukin-3 receptor alpha chain (also known as IL3RA) is a protein that in humans is encoded by the IL3RA gene. It is a part of the interleukin receptor family and plays a crucial role in the immune system.

Structure

The IL3RA gene is located on the X chromosome and consists of 10 exons. The protein encoded by this gene is a subunit of the interleukin 3 receptor (IL3R). This receptor is composed of an alpha chain (this protein) and a beta chain, which are associated with the cytokine receptor common gamma chain.

Function

IL3RA is involved in the transmission of signals for cell growth and differentiation. It is a part of the immune response and is expressed on the surface of several immune cells, including basophils, eosinophils, and dendritic cells. The binding of interleukin-3 to the IL3RA initiates a cascade of signals that leads to cell proliferation and differentiation.

Clinical significance

Mutations in the IL3RA gene have been associated with various diseases. For example, a high expression of IL3RA has been found in patients with acute myeloid leukemia (AML). This overexpression is associated with a poor prognosis. In addition, mutations in this gene have been linked to X-linked severe combined immunodeficiency (XSCID).

See also

• Interleukin-3
• Interleukin receptor
• Acute myeloid leukemia
• X-linked severe combined immunodeficiency

References

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