| Entrez gene ID | | 3977 |
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| Official gene symbol | | LIFR |
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| Full name | | leukemia inhibitory factor receptor alpha |
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| Aliases | | ,CD118,FLJ98106,FLJ99923,LIF-R,SJS2,STWS,SWS, |
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| Gene summary | | 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] |
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| Location | | Chromosome: 5 Locus: 5p13-p12 |
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| Gene position | | 38595507 - 38475065 Map Viewer |
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| Gene orientation | | minus |
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| Gene size | | 120443 bp |
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| Gene sequence |
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| OMIM ID | | 151443 |
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