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  • 發布時間:2022-07-21 09:47 原文鏈接: 與Hippo信號通路相關因子介紹TGFBR2

    該基因編碼的蛋白是一種跨膜蛋白,具有蛋白激酶結構域,與1型轉化生長因子β受體形成異二聚體復合物,并與轉化生長因子β結合。這種受體/配體復合物磷酸化蛋白質,然后進入細胞核,調節與細胞增殖、細胞周期阻滯、傷口愈合、免疫抑制和腫瘤發生有關的基因轉錄。該基因突變與marfan綜合征、loeys-deitz主動脈瘤綜合征和多種腫瘤的發生有關。另外,編碼不同亞型的剪接轉錄變體已經被描述。[由RefSeq提供,2017年8月]
    The protein encoded by this gene is a transmembrane protein that has a protein kinase domain, forms a heterodimeric complex with TGF-beta receptor type-1, and binds TGF-beta. This receptor/ligand complex phosphorylates proteins, which then enter the nucleus and regulate the transcription of genes related to cell proliferation, cell cycle arrest, wound healing, immunosuppression, and tumorigenesis. Mutations in this gene have been associated with Marfan Syndrome, Loeys-Deitz Aortic Aneurysm Syndrome, and the development of various types of tumors. Alternatively spliced transcript variants encoding different isoforms have been characterized. [provided by RefSeq, Aug 2017]

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