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  • 發布時間:2022-08-16 07:58 原文鏈接: LEPR基因編碼功能及結構描述

    該基因編碼的蛋白質屬于細胞因子受體gp130家族,已知該家族通過激活細胞溶質stat蛋白來刺激基因轉錄。該蛋白是瘦素(一種調節體重的脂肪細胞特異性激素)的受體,參與脂肪代謝的調節,以及正常淋巴生成所需的新的造血途徑。該基因突變與肥胖和垂體功能障礙有關。另外,還描述了編碼不同亞型的剪接轉錄變體。值得注意的是,這個基因和Leprot基因(geneid:54741)共享相同的啟動子,但是前2個外顯子編碼不同的蛋白質(pmid:9207021)。

    The protein encoded by this gene belongs to the gp130 family of cytokine receptors that are known to stimulate gene transcription via activation of cytosolic STAT proteins. This protein is a receptor for leptin (an adipocyte-specific hormone that regulates body weight), and is involved in the regulation of fat metabolism, as well as in a novel hematopoietic pathway that is required for normal lymphopoiesis. Mutations in this gene have been associated with obesity and pituitary dysfunction. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. It is noteworthy that this gene and LEPROT gene (GeneID:54741) share the same promoter and the first 2 exons, however, encode distinct proteins (PMID:9207021).

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