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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).
AAT5; activin A receptor type II-like kinase, 53kDa; activin A receptor type II-like protein kinase of 53kD; Activin receptor-like kinase 5; ACVRLK4; ALK5; Alk-5; AU017191; ESK2; ESS1; LDS1; LDS1A; LDS2A; MSSE; mutant transforming growth factor beta receptor I; ser; serine/threonine-protein kinase receptor R4; SKR4; TbetaRI; tbetaR-I; tgf beta receptor 1; TGF-beta receptor type I; TGF-beta receptor type-1; TGF-beta type I receptor; TGFBR1; TGFR1; TGFR-1; Transfor; transforming growth factor beta receptor 1; transforming growth factor beta receptor I; transforming growth factor, beta receptor 1; transforming growth factor, beta receptor I; transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kDa); transforming growth factor-beta receptor type I
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