IL12Rbeta1

IL12Rbeta1, also known as IL12RB1 or CD212, is a gene that encodes a protein subunit of the interleukin-12 receptor. This receptor is a heterodimer composed of two subunits, IL12Rbeta1 and the IL12Ralpha chain (IL12RA). The IL12Rbeta1 subunit is a type I transmembrane protein and is a member of the Type I cytokine receptor family.

The interleukin-12 receptor is crucial for mediating the effects of interleukin-12 (IL-12) and interleukin-23 (IL-23), both of which are important cytokines involved in immune responses. Specifically, IL-12Rbeta1 binds to IL-12 and IL-23, facilitating their interaction with the respective alpha chains to form functional receptors. This binding triggers intracellular signaling pathways, primarily the JAK-STAT pathway, which in turn regulates gene expression related to immune cell development, differentiation, and function.

Mutations or deficiencies in the IL12Rbeta1 gene can lead to impaired immune responses, particularly in cellular immunity. These defects are often associated with increased susceptibility to certain intracellular pathogens, such as mycobacteria. Conditions like Mendelian susceptibility to mycobacterial diseases (MSMD) can be caused by genetic defects in the IL12Rbeta1 pathway, highlighting its critical role in host defense against such infections. Research into IL12Rbeta1 continues to shed light on its intricate involvement in immune regulation and its implications for various inflammatory and infectious diseases.