TBX5 Gene
The TBX5 gene provides instructions for making a transcription factor called T-box 5 which plays an important role in the formation of tissues and organs during embryonic development. The T-box 5 protein activates genes that play an important role in the growth and development of the heart. This protein appears to be particularly important for the formation of the septum which separates the right and left sides of the heart. The T-box 5 protein is also critical to the formation of the electrical system that coordinates contractions of the heart chambers. Mutations in the T-box transcription factor TBX5 cause Holt-Oram syndrome (HOS), an autosomal-dominant condition characterized by a familial history of congenital heart defects and preaxial radial ray upper limb defects.
