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TGFBR1基因编码的功能和结构描述

2022.8.23
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该基因编码的蛋白质与tgf-β结合时,与ii型tgf-β受体形成异基因复合物,将细胞表面的tgf-β信号转导至细胞质。编码的蛋白质是丝氨酸/苏氨酸蛋白激酶。该基因突变与loeys-dietz主动脉瘤综合征(ldas)有关。已发现该基因编码不同亚型的多个转录变体。

The protein encoded by this gene forms a heteromeric complex with type II TGF-beta receptors when bound to TGF-beta, transducing the TGF-beta signal from the cell surface to the cytoplasm. The encoded protein is a serine/threonine protein kinase. Mutations in this gene have been associated with Loeys-Dietz aortic aneurysm syndrome (LDAS). Multiple transcript variants encoding different isoforms have been found for this gene.

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