TBX5 is a member of the T-box transcription factor family and is primarily known for its role in
cardiac and forelimb development. Human patients with dominant mutations in TBX5 are
characterized by Holt–Oram syndrome, and show defects of the cardiac septa, cardiac
conduction system, and the anterior forelimb. The range of cardiac defects associated with
TBX5 mutations in humans suggests multiple roles for the transcription factor in cardiac
development and function. Animal models demonstrate similar defects and have provided a …