Immunogen sequence: NPYTLYTFRI RCSTETFWKW SKWSNKKQHL TTEASPSKGP DTWREWSSDG KNLIIYWKPL PINEANGKIL SYNVSCSSDE ETQSLSEIPD PQHKAEIRLD KNDYIISVVA KNSVGSSPPS KIASMEIPND DLKIEQVVGM GKGILLTWHY DPNMTCDYVI KWCNSSRSEP CLMDWRKVPS NSTETVIESD EFRPGIRYNF F; Positive Samples: Mouse skeletal muscle; Cellular Location: Cell membrane, Single-pass type I membrane 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.
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Protein Aliases: CD118; D-factor/LIF receptor; Leukemia inhibitory factor receptor; leukemia inhibitory factor receptor alpha chain; LIF receptor; LIF-R; soluble differentiation-stimulating factor receptor
Gene Aliases: A230075M04Rik; AW061234; LIF; Lifr
UniProt ID: (Mouse) P42703
Entrez Gene ID: (Mouse) 16880