{"symbol":"LIFR","synonyms":["SJS2","CD118","STWS","LIF-R"],"name":"leukemia inhibitory factor receptor alpha","description":"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. [provided by RefSeq, Jun 2018]","ncbiEntrezGeneId":3977,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/3977","proteins":[{"symbol":"LIFR_HUMAN","href":"/api/1.0/protein/LIFR_HUMAN"}],"hgncRootFamilies":[{"name":"CD molecules (CD)","href":"/api/1.0/gene_family/CD+molecules+%28CD%29"},{"name":"Fibronectin type III domain containing","href":"/api/1.0/gene_family/Fibronectin+type+III+domain+containing"}]}