Description
N-terminal GST-tagged recombinant, human TGFBR1 amino acids 200–end containing a T204D mutation. Transforming growth factor, beta receptor type I (TGF-beta receptor I) forms a heteromeric complex with TGF-beta receptor type II when bound to TGF-beta. This complex transduces the TGF-beta signal from the cell surface to the cytoplasm. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. TGF-beta receptor I is found in all tissues, but is most abundant in placenta and least abundant in brain and heart tissue. TGF-beta receptor I is phosphorylated at basal levels in the absence of ligand binding and is multiply phosphorylated, mainly in the GS region. Defects in TGF-beta receptor I are the cause of Loeys-Dietz syndrome type 1A (LDS1A), also known as Furlong syndrome or Loeys-Dietz aortic aneurysm syndrome (LDAS)