TBX20
Description
The TBX20 (T-box transcription factor 20) is a protein-coding gene located on chromosome 7.
TBX20 is a gene belonging to the T-box family, encoding the transcription factor TBX20. This gene is vital for early heart development, adult heart function, and yolk sac vasculature remodeling. It has been linked to congenital heart diseases. Research in mice, humans, and fruit flies demonstrates its critical role in heart development. TBX20 is also involved in the migration of hindbrain motor neurons and may regulate the non-canonical Wnt signaling pathway in facial neurons. Mutations in TBX20 can lead to congenital heart defects, such as septal defects. These defects disrupt the proper separation of the heart's chambers, causing deoxygenated blood to flow into the left atrium and ventricle, resulting in cyanosis (bluish skin discoloration) due to oxygen deficiency. TBX20 regulates other genes crucial for cardiomyocyte proliferation, including TBX2 and N-myc1.
TBX20 is also known as ASD4.
