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  • 發布時間:2022-07-27 11:25 原文鏈接: LIFR基因突變與藥物因子介紹

    該基因編碼一種屬于I型細胞因子受體家族的蛋白質該蛋白與高親和力的轉換亞單位gp130結合形成受體復合物,介導白血病抑制因子的作用,白血病抑制因子是一種多功能細胞因子,參與成人和胚胎的細胞分化、增殖和存活。該基因突變導致Schwartz-Jampel綜合征2型,一種屬于彎曲骨發育不良的疾病。該基因啟動子t(5;8)(p13;q12)與涎腺多形性腺瘤基因1易位,與涎腺多形性腺瘤(涎腺良性上皮性腫瘤的一種常見類型)有關。已發現該基因的多個剪接變體編碼兩種不同的亞型[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 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. [provided by RefSeq, Jun 2018]

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