Anti-PITX1/BFT antibody

Supplementary info

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

Activity summary

The PITX1 gene also known as BFT or BFT NZ encodes the Pituitary Homeobox 1 protein. This protein is a homeodomain transcription factor and plays an important role in regulating gene expression by binding to specific DNA sequences. PITX1 has a molecular mass of approximately 33 kDa. It is primarily expressed in tissues like the pituitary gland lower limbs and jaw. The expression in these specific areas hints at its importance in the developmental processes that occur during embryogenesis.

Biological function summary

The PITX1 protein functions as part of the regulation of limb and craniofacial development. It is not part of a larger protein complex but works independently to influence the differentiation and development of specific cell types. In the embryonic stages PITX1 directs the growth and formation of lower limb structures and mutations in this gene can lead to limb malformations. The protein also has roles in craniofacial development highlighting its multifaceted biological functions.

Pathways

PITX1 is involved in the Wnt signaling pathway and the Hedgehog pathway both essential for proper developmental processes. In the Wnt signaling pathway PITX1 interacts with other proteins such as β-catenin to modulate gene expression necessary for limb development. In the Hedgehog pathway PITX1 influences how cells respond to Hedgehog signals affecting cell growth and specialization. The coordinated role of PITX1 in these pathways supports its critical involvement in developmental regulation.

Associated diseases and disorders

PITX1 has connections to clubfoot and Liebenberg syndrome. Clubfoot a congenital deformity of the foot often links to mutations or alterations in PITX1 expression affecting limb development. Moreover Liebenberg syndrome suggests altered expression or function of PITX1 leading to misregulated limb and joint formation. In both diseases associations with proteins like β-catenin and hedgehog proteins illustrate how changes in PITX1 can result in significant phenotypic abnormalities reflecting its importance in both normal and pathological conditions.