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.
Aliases ： LIFR; SWS; SJS2; STWS; LIF-R
Entrez GeneID： 3977
Swissprot ： P42702
WB Predicted band size： 123.7kDa
Host/Isotype ： Mouse IgG1
Species Reactivity ： Human
Immunogen ： Purified recombinant fragment of human PLA2G7 (AA: 22-441) expressed in E. Coli.
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