TBX5

TBX4 is a member of the T-box family of transcription factors, which are crucial in the regulation of developmental processes. The T-box family is characterized by a conserved DNA-binding domain known as the T-box. TBX4, in particular, plays a significant role in the development of the hindlimb and the formation of the respiratory system.

Structure and Function

TBX4 is encoded by the TBX4 gene, located on chromosome 17q23.2 in humans. The protein consists of a T-box domain that binds to specific DNA sequences, regulating the expression of target genes involved in developmental pathways.

Role in Development

TBX4 is essential for the proper formation of the hindlimbs. It is expressed in the mesenchyme of the developing limb buds and is involved in the signaling pathways that pattern the limb. Mutations in TBX4 can lead to limb malformations, such as those seen in Small Patella Syndrome.

In addition to its role in limb development, TBX4 is also critical in the formation of the respiratory system. It is expressed in the mesenchyme surrounding the developing lung and is involved in the branching morphogenesis of the lung. TBX4 interacts with other transcription factors and signaling molecules to ensure the proper development of the respiratory tract.

Clinical Significance

Mutations in the TBX4 gene have been associated with several congenital disorders. One of the most notable is Small Patella Syndrome, also known as Ischiocoxopodopatellar Syndrome, which is characterized by patellar aplasia or hypoplasia, pelvic anomalies, and foot malformations.

TBX4 has also been implicated in pulmonary arterial hypertension (PAH), a condition characterized by high blood pressure in the arteries of the lungs. Studies have shown that mutations in TBX4 can lead to familial forms of PAH, highlighting its importance in vascular development and function.

Research and Future Directions

Ongoing research is focused on understanding the precise molecular mechanisms by which TBX4 regulates gene expression during development. There is also interest in exploring the potential therapeutic targets within the TBX4 signaling pathways for treating congenital disorders and pulmonary diseases.

Also see

• T-box transcription factor family
• Small Patella Syndrome
• Pulmonary arterial hypertension
• Limb development
• Transcription factors