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Entrez GeneID

Gene Name

LIFR

Gene Alias

CD118, FLJ98106, FLJ99923, LIF-R, SJS2, STWS, SWS

Gene Description

leukemia inhibitory factor receptor alpha

Omim ID

Gene Ontology

Gene 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

Other Designations

CD118 antigen|leukemia inhibitory factor receptor