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 Alzheimers Disease Pathway and ERK Signaling. GO annotations related to this gene include growth factor binding and ciliary neurotrophic factor receptor activity. An important paralog of this gene is CSF3R.
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.