The SMAD family of proteins are a group of intracellular signal transducer proteins similar to the gene products of the Drosophila gene ‘mothers against decapentaplegic’ (Mad) and the C. elegans gene Sma. The SMAD3 protein functions in the transforming growth factor-beta signaling pathway, and transmits signals from the cell surface to the nucleus, regulating gene activity and cell proliferation. It also functions as a tumor suppressor. Mutations in this gene are associated with aneurysms-osteoarthritis syndrome and Loeys-Dietz Syndrome 3. [provided by RefSeq, Nov 2019]

  • Negative regulation of transcription by RNA polymerase II
  • Skeletal system development
  • Osteoblast differentiation
  • Ureteric bud development
  • Response to hypoxia
  • Loeys-dietz syndrome 3
  • Familial thoracic aortic aneurysm and aortic dissection
  • Connective tissue disease
  • Loeys-dietz syndrome
  • Aneurysm

Emw. Structure of the SMAD3 protein. Based on PyMOL rendering of PDB 1dev.

Gene Location