Aliases for LIFR Gene
External Ids for LIFR Gene
Previous GeneCards Identifiers for LIFR Gene
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]
GeneCards Summary for LIFR Gene
LIFR (Leukemia Inhibitory Factor Receptor Alpha) is a Protein Coding gene. Diseases associated with LIFR include Stuve-Wiedemann Syndrome/Schwartz-Jampel Type 2 Syndrome and Sturge-Weber Syndrome, Somatic, Mosaic. Among its related pathways are Activation of cAMP-Dependent PKA and GPCR Pathway. GO annotations related to this gene include growth factor binding and ciliary neurotrophic factor receptor activity. An important paralog of this gene is OSMR.
UniProtKB/Swiss-Prot for LIFR Gene
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.