IL6R
The IL6R gene encodes the interleukin-6 receptor. This receptor is a transmembrane protein that plays a crucial role in the signaling pathway of interleukin-6 (IL-6), a pleiotropic cytokine involved in numerous biological processes, including inflammation, immune response, and cell differentiation. The IL-6 receptor exists in two forms: a membrane-bound form and a soluble form, both of which are produced from the IL6R gene. The soluble form can bind to IL-6 and then interact with the membrane-bound form to transmit the signal. This interaction is essential for the activation of downstream signaling cascades, such as the JAK-STAT pathway. Mutations in the IL6R gene have been associated with various conditions, including certain autoimmune diseases and inflammatory disorders. Polymorphisms within the IL6R gene can also influence an individual's susceptibility to or the severity of these diseases, as well as their response to therapies targeting the IL-6 pathway. Understanding the function and genetic variations of IL6R is important for research into inflammatory and autoimmune diseases.