TGFBR2

The TGFBR2 gene provides instructions for making a protein called transforming growth factor-beta (TGF-β) receptor type 2. This receptor is critical for transmitting signals from outside the cell to the interior, affecting cell growth, division, and other functions.

Associated Diseases

Loeys-Dietz syndrome 2, Marfan syndrome, colorectal cancer

Did you know

Mutations in TGFBR2 can not only disrupt important signaling pathways but have also been implicated in the development of aortic aneurysms.