TCDB

T-box transcription factor TBX5
Identifiers
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TBX5 is a T-box transcription factor that plays a crucial role in the development of the heart and upper limbs. It is encoded by the TBX5 gene located on chromosome 12q24.21 in humans. Mutations in this gene are associated with Holt-Oram syndrome, a disorder characterized by skeletal abnormalities of the hands and arms (upper limbs) and heart problems.

Function

TBX5 is a member of the T-box family of transcription factors, which are involved in the regulation of developmental processes. The protein encoded by the TBX5 gene is essential for the proper formation of the heart and upper limb structures during embryonic development. It functions by binding to specific DNA sequences and regulating the expression of target genes that are critical for these developmental processes.

In the heart, TBX5 is involved in the development of the cardiac septum, the structure that separates the left and right sides of the heart. It also plays a role in the formation of the conduction system of the heart, which is responsible for controlling the heartbeat.

Clinical Significance

Mutations in the TBX5 gene can lead to Holt-Oram syndrome, which is characterized by congenital heart defects and limb abnormalities. The heart defects can include atrial septal defects, ventricular septal defects, and conduction system abnormalities such as atrioventricular block. Limb abnormalities typically involve the thumbs and forearms, which may be underdeveloped or absent.

Research and Studies

Research on TBX5 has provided insights into the molecular mechanisms underlying heart and limb development. Studies have shown that TBX5 interacts with other transcription factors and signaling pathways to coordinate the development of these structures. For example, TBX5 has been shown to interact with NKX2-5, another transcription factor important for heart development.

Also see

• Holt-Oram syndrome
• T-box transcription factors
• Cardiac development
• Congenital heart defects

References

Template:T-box family