IL12RB1
Overview
The IL12RB1 gene, also known as the Interleukin 12 Receptor, Beta 1, is a type of gene that is found in humans. It is located on the long arm of chromosome 19 at position 13.2. This gene is responsible for encoding a type of protein that is known as a cytokine receptor. This receptor is specifically involved in the functioning of the immune system.
Function
The IL12RB1 gene provides instructions for making a protein that forms one part of a receptor for two different cytokines, known as interleukin 12 (IL-12) and interleukin 23 (IL-23). These cytokines are important for immune system function. The IL12RB1 protein combines with other proteins to form the receptors for these cytokines. When IL-12 or IL-23 binds to its receptor, it triggers a series of chemical signals inside immune cells, which stimulate an immune response.
Structure
The IL12RB1 gene is composed of 16 exons and spans approximately 69.5 kilobases on chromosome 19. The protein encoded by this gene is a type I transmembrane protein identified as a subunit of the interleukin 12 receptor complex. The coexpression of this and IL12RB2 proteins was shown to lead to the formation of high-affinity IL12 binding sites and reconstitution of IL12 dependent signaling.
Clinical Significance
Mutations in the IL12RB1 gene can lead to a variety of immune disorders. These include Mendelian susceptibility to mycobacterial disease (MSMD), which is a condition that affects individuals' ability to combat mycobacterial infections. Other disorders associated with mutations in this gene include IL12RB1 deficiency and immune dysregulation.
Research
Research into the IL12RB1 gene has been extensive, particularly in relation to its role in immune response. Studies have shown that mutations in this gene can lead to a decreased ability to respond to infections, particularly those caused by mycobacteria. This has led to the development of new treatments for diseases such as tuberculosis.