The protein encoded by this gene 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). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]

  • Activation of MAPKK activity
  • Skeletal system development
  • Angiogenesis
  • In utero embryonic development
  • Kidney development
  • Multiple self-healing squamous epithelioma
  • Loeys-dietz syndrome 1
  • Loeys-dietz syndrome
  • Familial keratoacanthoma
  • Familial thoracic aortic aneurysm and aortic dissection

Emw. Structure of the TGFBR1 protein. Based on PyMOL rendering of PDB 1b6c

Gene Location