IL12RB1 Gene

Last updated on: 01.04.2022

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IL12RB1 (IL12RB1 stands for "Interleukin 12 Receptor Subunit Beta 1") is a protein coding gene located on chromosome 19p13.11. The protein encoded by the IL12RB1 gene is a type I transmembrane protein that belongs to the hemopoietin receptor superfamily. This protein binds with low affinity to interleukin 12 (IL12) and is thought to be part of the IL12 receptor complex. The protein forms a disulfide-linked oligomer that is required for its IL12-binding activity.

Coexpression of this protein and IL12RB2 has been shown to lead to the formation of functional, high-affinity receptors for IL12. These are necessary for IL12-dependent signal transduction. Mutations in this gene impair the development of interleukin-17-producing T lymphocytes and lead to increased susceptibility to mycobacterial and Salmonella infections.

Clinical picture
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Diseases associated with IL12RB1 include:

  • Immunodeficiency 30.

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Last updated on: 01.04.2022