IL2RG
IL2RG
The IL2RG gene, also known as the Interleukin-2 receptor subunit gamma gene, is a crucial component in the human immune system. It is located on the X chromosome and is responsible for encoding the common gamma chain (γc), a subunit of many interleukin receptors that are essential for lymphocyte development and function.
Function[edit | edit source]
The Interleukin-2 receptor subunit gamma (IL2RG) gene is involved in the formation of high-affinity IL-2 receptors. It is a critical component of several interleukin receptors, including those for IL-2, IL-4, IL-7, IL-9, IL-15, and IL-21. These receptors are involved in the growth and differentiation of various immune cells such as T cells, B cells, and natural killer cells.
Clinical Significance[edit | edit source]
Mutations in the IL2RG gene can lead to X-linked severe combined immunodeficiency (X-SCID), a condition characterized by a lack of immune response to infections. This is due to the absence or malfunction of the γc chain, which impairs the development and function of critical immune cells.
See Also[edit | edit source]
References[edit | edit source]
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