Gene: LIFR

Alternate names for this Gene: CD118|LIF-R|SJS2|STWS|SWS

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 two different isoforms have been found for this gene.

Gene is located in Chromosome: 5

Location in Chromosome : 5p13.1

Description of this Gene: LIF receptor subunit alpha

Type of Gene: protein-coding

rs1114167358 in LIFR gene and Cakut PMID 28334964 2017 Mutations in the leukemia inhibitory factor receptor (LIFR) gene and Lifr deficiency cause urinary tract malformations.

rs886042160 in LIFR gene and HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 PMID 14740318 2004 Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome.