TGFBR1(redirected from OTTHUMP00000021783)
TGFBR1A gene on chromosome 9q22 that encodes a transmembrane kinase of the TGFB receptor subfamily of Ser/Thr protein kinases, which forms a heteromer with type-II TGF-beta receptors and binds TGF-beta. This receptor/ligand complex phosphorylates proteins which enter the nucleus and regulate transcription of cell proliferation-related genes.
TGFBR1 mutations are associated with Loeys-Deitz aortic aneurysm syndrome.
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