Anti-TBX1 antibody [EPR3289(2)]

Supplementary info

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

Activity summary

TBX1 also known as T-box protein 1 is a transcription factor with a molecular weight of around 58 kDa. It belongs to the T-box gene family and plays a role in regulating transcriptional activity of specific genes. TBX1 expresses mostly in mesodermal and neural crest cell derivatives during embryonic development. High expression levels occur in the pharyngeal arches which are structures important for the development of facial and neck regions.

Biological function summary

This protein influences developmental processes involving tissues derived from the pharyngeal arches. TBX1 functions as a part of a regulatory network important for proper embryogenesis. It does not form part of a stable complex but interacts with many cofactors to direct the transcription of genes responsible for cell proliferation differentiation and migration. The correct functioning of TBX1 ensures normal formation and patterning of the craniofacial structures cardiac outflow tract and great vessels.

Pathways

TBX1 engages in the retinoic acid signaling pathway which is essential for the regulation of gene expression during development. It also plays an important role in the fibroblast growth factor (FGF) signaling pathway. These pathways involve related proteins like FGF8 and FGF10 which are important for coordinated signaling during morphogenesis. TBX1's regulatory influence on these pathways highlights its importance in developmental signaling networks.

Associated diseases and disorders

TBX1 is most notably associated with DiGeorge syndrome a condition resulting from deletions on chromosome 22q11.2 which impacts multiple systems including the heart and immune system. Mutations or deletions affecting TBX1 are linked with the syndrome's characteristic features such as heart defects and craniofacial abnormalities. Additionally disruptions in TBX1 may connect to congenital heart disease interacting with other proteins similarly implicated in structural heart defects during embryonic development.