IL2RB
Description
The IL2RB gene, located on chromosome 10, encodes the beta chain of the interleukin-2 receptor (IL-2R). This receptor plays a crucial role in the immune system by mediating the signaling of interleukin-2 (IL-2), a cytokine essential for the growth, differentiation, and survival of T cells. The IL2RB gene is involved in various immune processes, including T cell activation, proliferation, and cytokine production, ultimately contributing to the body‘s defense against infections and diseases.
Associated Diseases
- X-linked severe combined immunodeficiency (XSCID): Mutations in IL2RB can lead to a severe immunodeficiency disorder characterized by a lack of T cell function.
- Common variable immunodeficiency (CVID): Some individuals with CVID may have mutations in IL2RB, contributing to their impaired antibody production.
- Autoimmune diseases: Dysregulation of IL-2 signaling due to IL2RB mutations can contribute to the development of autoimmune diseases.
- Cancer: Altered IL2RB expression has been linked to various types of cancers, including leukemia and lymphoma.
Did you know?
IL2RB is a member of the cytokine receptor family, which is characterized by a conserved structure that allows for the binding of various cytokines, including IL-2, IL-4, and IL-7.
