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Overview
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TGFBR1 or transforming growth factor, beta-receptor 1 is a member of the TGFbeta receptor subfamily and is a ser/thr protein kinase that 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. Mutations in TGFBR1gene have been associated with Marfan syndrome, Loeys-Deitz Aortic Aneurysm Syndrome, and the development of various types of tumors. TGFBR1-dependent signaling is required for angiogenesis but not for the development of hematopoietic progenitor cells and functional hematopoiesis.
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