T-Box Protein 20 (TBX20)

TBX20 encodes a T-box family member. This gene is essential for heart development. Mutations in this gene are associated with diverse cardiac pathologies, including defects in septation, valvulogenesis and cardiomyopathy. Human TBX20 encodes a deduced 297-amino acid protein that shares approximately 71% sequence identity with the T-box domain of the Drosophila H15 protein. H15 is expressed in leg imaginal discs and is thought to play a role in early patterning events. RT-PCR analysis showed that human TBX20 is expressed in the fetal heart, eye, and limb. In situ hybridization showed that during embryogenesis in the mouse, Tbx20 is expressed in the developing heart, eye, ventral neural tube, and limbs, indicating a possible role in regulating development of these tissues. Tbx20 is also present in adult heart.