Anti-TBX5 antibody [EPR23798-102]

Supplementary info

This supplementary information is collated from multiple sources and compiled automatically.

Activity summary

TBX5 also known as T-box transcription factor 5 is a protein that acts as a transcription factor. It has a mass of approximately 53 kDa. TBX5 is expressed significantly in the heart and limb tissues highlighting its importance in these areas. The protein contains a T-box domain that binds to specific DNA sequences allowing it to regulate the transcription of genes involved in developmental processes. TBX5 plays a critical role during embryogenesis particularly affecting cardiac and limb development.

Biological function summary

The function of TBX5 extends to various cellular processes. It is involved in forming the cardiac septum and limb bud acting through its role as part of the transcriptional program. TBX5 doesn't typically form a complex with other proteins but interacts with partners like GATA4 to influence gene expression. These interactions enable TBX5 to activate or repress target genes necessary for organ and limb morphogenesis making it fundamental in developmental biology.

Pathways

TBX5 operates within the cardiac development and limb differentiation pathways. It interacts with other critical factors such as NKX2-5 and TBX3 to coordinate the differentiation and proliferation processes essential for forming functional heart and limb structures. In heart development TBX5 and NKX2-5 synergistically work to activate cardiac-specific genes influencing the patterning and structural formation of the heart. The protein's involvement in limb differentiation emphasizes its dual role in these important developmental pathways.

Associated diseases and disorders

TBX5 has significant associations with conditions like Holt-Oram syndrome and congenital heart defects. Holt-Oram syndrome a disorder arising from mutations in the TBX5 gene is characterized by limb abnormalities and cardiac anomalies illustrating the protein's role in heart and limb development. TBX5 is also linked to cardiac arrhythmias with its molecular pathways involving proteins like NKX2-5. Mutations leading to TBX5 dysfunction impact these pathways resulting in developmental malformations and contributing to complex congenital conditions.