IL12RB1
Description
The IL12RB1 (interleukin 12 receptor subunit beta 1) is a protein-coding gene located on chromosome 19.
IL12RB1, also known as CD212, is a gene that encodes a type I transmembrane protein, a subunit of the IL-12 and IL-23 receptors. It belongs to the hemopoietin receptor superfamily. IL12RB1 binds to IL-12 with low affinity, forming a disulfide-linked oligomer that is required for its IL-12 binding activity. When coexpressed with IL12RB2, high-affinity IL-12 binding sites form, and IL-12 dependent signaling is reconstituted. IL12RB1 can also bind IL-23 as part of the IL-23 receptor complex. This complex forms a disulfide-linked oligomer, required for its IL-23 binding activity. Coexpression of IL12RB1 and IL-23R forms IL-23 binding sites.
IL12RB1, a subunit of the IL-12 and IL-23 receptors, binds IL-12 with low affinity, playing a role in IL12 signal transduction. It forms a high-affinity IL-12 receptor when associated with IL12RB2. IL12RB1 also forms the IL-23 receptor with IL23R, participating in IL-23 signal transduction likely via the Jak-Stat pathway.
IL12RB1 is also known as CD212, IL-12R-BETA1, IL12RB, IMD30.
Associated Diseases
- Immunodeficiency 30
- Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
- Primary biliary cholangitis
