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CD118 Gene ID | 3977 |
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CD118 Official Full Name | leukemia inhibitory factor receptor alpha |
CD118 Alias | LIFR, gp190 |
CD118 Cellular Expression | Epithelial; monocytes |
CD118 Ligand/Receptor/Association | LIF, OSM, CNTF, CT1 |
CD118 Function | Regulates a variety of biological responses including cell proliferation, apoptosis, chemotaxis and adhesion |
CD118 Summary | 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 the same protein have been found for this gene. [provided by RefSeq, Jul 2008] |