TGFBR2(redirected from OTTHUMP00000208552)
TGFBR2A gene on chromosome 3p22 that encodes a transmembrane kinase of the TGFB receptor subfamily of Ser/Thr protein kinases, which forms a heteromer with type-I 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.
TGFBR2 mutations are associated with Marfan syndrome, Loeys-Deitz aortic aneurysm syndrome and development of various tumours.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.