SMAD3

The SMAD3 gene builds a protein in a pathway controlling cell growth and development. Mutations in SMAD3 can disrupt this pathway, leading to conditions like Loeys-Dietz Syndrome (connective tissue problems) and Familial Thoracic Aortic Aneurysm and Dissection (weakening and tearing of the aorta).

Associated Diseases

Loeys-Dietz Syndrome and Familial Thoracic Aortic Aneurysm and Dissection

Did you know

SMAD3 might play a part in various processes like regulating cell proliferation, cancer development, and even heart function. Ongoing research is exploring these connections.