This gene encodes a protein that belongs to the type I cytokine receptor family. This protein combines with a high-affinity converter subunit, gp130, to form a receptor complex that mediates the action of the leukemia inhibitory factor, a polyfunctional cytokine that is involved in cellular differentiation, proliferation and survival in the adult and the embryo. Mutations in this gene cause Schwartz-Jampel syndrome type 2, a disease belonging to the group of the bent-bone dysplasias. A translocation that involves the promoter of this gene, t(5;8)(p13;q12) with the pleiomorphic adenoma gene 1, is associated with salivary gland pleiomorphic adenoma, a common type of benign epithelial tumor of the salivary gland. Multiple splice variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2018]
Alternative Names
CD118 antigen D-factor/LIF receptor FLJ98106 FLJ99923 higher MW cellular form from non-spliced full CDS leukemia inhibitor factor receptor alpha-chain leukemia inhibitory factor receptor alpha leukemia inhibitory factor receptor alpha chain LIF R beta LIF receptor alpha LIF-R soluble differentiation-stimulating factor receptor Soluble lower MW form from alternatively spliced prematurely terminated CDS