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Overview
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ALK1 is a serine/threonine-protein kinase receptor R3 precursor that mediates signal by TGFβ superfamily. ALK1 functions as a TGFβ type I receptor in endothelial cells and is responsible for human hereditary hemorrhagic telangiectasia (HHT) type II. Distinct Smad proteins (i.e., Smad2/Smad3 and Smad1/Smad5) show interaction with ALK1 and mediate TGFβ signaling. Northern blot and RT-PCR analysis show that ALK1 specifically induces expression of Smad6, Smad7, Id1, Id2, endoglin, STAT1, and interleukin 1 receptor in endothelial cells. ALK1 expression in inflammatory myofibroblastic tumor of the urinary bladder have also has been reported.
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Overview