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TGFBR1 is a transmembrane serine/threonine kinase in the TGFBR1 superfamily, which also includes ACVRs and BMPRs. Upon binding TGF-b, TGFBR2 dimerizes with and activates TGFBR1 via phosphorylation leading to downstream phosphorylation of SMADs by TGFBR1. TGFBR1 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).
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