LIFR (CD118) Human Recombinant Protein

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]

LIFR: Signal-transducing molecule. May have a common pathway with IL6ST. The soluble form inhibits the biological activity of LIF by blocking its binding to receptors on target cells. Defects in LIFR are the cause of Stueve-Wiedemann syndrome (SWS); also knowns as Schwartz-Jampel syndrome type 2 (SJS2). SWS is a severe autosomal recessive condition and belongs to the group of the bent-bone dysplasias. SWS is characterized by bowing of the lower limbs, with internal cortical thickening, wide metaphyses with abnormal trabecular pattern, and camptodactyly. Additional features include feeding and swallowing difficulties, as well as respiratory distress and hyperthermic episodes, which cause death in the first months of life. The rare survivors develop progressive scoliosis, spontaneous fractures, bowing of the lower limbs, with prominent joints and dysautonomia symptoms, including temperature instability, absent corneal and patellar reflexes, and smooth tongue. A chromosomal aberration involving LIFR is found in salivary gland pleiomorphic adenomas, the most common benign epithelial tumors of the salivary gland. Translocation t(5;8)(p13;q12) with PLAG1. Belongs to the type I cytokine receptor family. Type 2 subfamily. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Receptor, cytokine; Membrane protein, integral

Chromosomal Location of Human Ortholog: 5p13-p12

Cellular Component: integral to plasma membrane; receptor complex

Molecular Function: leukemia inhibitory factor receptor activity; oncostatin-M receptor activity; growth factor binding; ciliary neurotrophic factor receptor activity; ciliary neurotrophic factor receptor binding

Biological Process: cell surface receptor linked signal transduction; leukemia inhibitory factor signaling pathway; response to cytokine stimulus; cytokine and chemokine mediated signaling pathway; positive regulation of cell proliferation

Disease: Stuve-wiedemann Syndrome