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CD118 / LIF Receptor Alpha is 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.
|Gene Name:||leukemia inhibitory factor receptor alpha|
|Synonyms:||LIFR, CD118, CD118 antigen, LIF receptor, SJS2, STWS, Sws, LIF-R|
|Target Sequences:||NM_002310 NP_002301.1 P42702|
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