disease:A chromosomal rearrangement involving LIFR may be a cause of salivary gland pleiomorphic adenomas (PA) [181030]. Pleiomorphic adenomas are the most common benign epithelial tumors of the salivary gland. Translocation t(5;8)(p13;q12) with PLAG1.,
disease:Defects in LIFR are the cause of Stueve-Wiedemann syndrome (SWS) [MIM:601559]; also called Schwartz-Jampel syndrome type 2 or SJS2. SWS is a 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.,
domain:The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding.,
domain:The box 1 motif is required for JAK interaction and/or activation.,
function: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.,
similarity:Belongs to the type I cytokine receptor family. Type 2 subfamily.,
similarity:Contains 6 fibronectin type-III domains.,
subcellular location:Isoform 1: Cell membrane; Single-pass type I membrane protein.,
subcellular location:Isoform 2: Secreted.,
subunit:Heterodimer composed of LIFR and IL6ST.,
The leukemia inhibitory factor is a polyfunctional cytokine that affects the differentiation, survival, and proliferation of a wide variety of cells in the adult and the embryo. LIF action appears to be mediated through a high-affinity receptor complex composed of a low-affinity LIF binding chain (LIF receptor) and a high-affinity converter subunit, gp130. Both LIFR and gp130 are members of a family of cytokine receptors that includes components of the receptors for the majority of hematopoietic cytokines and for cytokines that affect other systems, including the ciliary neurotrophic factor, growth hormone and prolactin.,
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