LIFR

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]

leukemia inhibitory factor receptor alpha

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.

Cell surface receptor signaling pathwayManual Assertion Based On ExperimentTAS:ProtInc
Ciliary neurotrophic factor-mediated signaling pathwayManual Assertion Based On ExperimentIDA:BHF-UCL
Cytokine-mediated signaling pathwayManual Assertion Based On ExperimentIDA:MGI
Leukemia inhibitory factor signaling pathwayManual Assertion Based On ExperimentIDA:BHF-UCL
Oncostatin-M-mediated signaling pathwayManual Assertion Based On ExperimentIMP:BHF-UCL
Positive regulation of cell population proliferationManual Assertion Based On ExperimentIDA:BHF-UCL
Response to cytokineManual Assertion Based On ExperimentIDA:BHF-UCL

Isoform 1:
Cell membran
Isoform 2:
Secreted

Stueve-Wiedemann syndrome (STWS):
Severe autosomal recessive condition and belongs to the group of the bent-bone dysplasias. SWS is characterized by bowing of the lower limbs, with internal cortical thickening, wide metaphyses with abnormal trabecular pattern, and camptodactyly. Additional features include feeding and swallowing difficulties, as well as respiratory distress and hyperthermic episodes, which cause death in the first months of life. The rare survivors develop progressive scoliosis, spontaneous fractures, bowing of the lower limbs, with prominent joints and dysautonomia symptoms, including temperature instability, absent corneal and patellar reflexes, and smooth tongue.
A chromosomal aberration involving LIFR is found in salivary gland pleiomorphic adenomas, the most common benign epithelial tumors of the salivary gland. Translocation t(5;8)(p13;q12) with PLAG1.

Extracellular: 45-833
Helical: 834-858
Cytoplasmic: 859-1097