LIFR(LIF receptor subunit alpha),癌症关联基因,基因ID:3977,该基因编码一种属于I型细胞因子受体家族的蛋白质该蛋白与高亲和力的转换亚单位gp130结合形成受体复合物,介导白血病抑制因子的作用,白血病抑制因子是一种多功能细胞因子,参与成人和胚胎的细胞分化、增殖和存活。该基因突变导致Schwartz-Jampel综合征2型,一种属于弯曲骨发育不良的疾病。该基因启动子t(5;8)(p13;q12)与涎腺多形性腺瘤基因1易位,与涎腺多形性腺瘤(涎腺良性上皮性肿瘤的一种常见类型)有关。已发现该基因的多个剪接变体编码两种不同的亚型[由RefSeq提供,2018年6月]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 ad。