SMAD3 Gene
The SMAD3 gene provides instructions for making a protein involved in transmitting chemical signals from the cell surface to the nucleus. This gene encodes a member of the TGF-β pathway that is essential for TGF-β signal transmission. SMAD3 mutations lead to increased aortic expression of several key players in the TGF-β pathway, including SMAD3. Through the TGF-β signaling pathway, the SMAD3 protein also influences many aspects of cellular processes, including proliferation, migration, and apoptosis. Diseases associated with SMAD3 include Loeys-Dietz Syndrome 3 and Familial Thoracic Aortic Aneurysm, and Aortic Dissection.
