Anti-PAX6 antibody

Supplementary info

Activity summary

The PAX6 protein also known as paired box 6 is a transcription factor involved in the development of eyes and neural tissues. It consists of a paired domain and a homeodomain collectively giving a molecular weight of approximately 48 kDa. This protein is highly expressed in developing ocular and central nervous tissues where it controls the expression of genes necessary for proper development. PAX6 is a widely studied marker in developmental biology due to its critical role in cellular differentiation and patterning processes.

Biological function summary

PAX6 acts as an important regulator in eye and neural development functioning alone and as part of larger complexes with other transcription factors. This role ensures the correct formation of ocular structures including the lens retina and cornea and neural elements by activating downstream targets important for cell fate decisions. The PAX6 protein intricately influences the genetic circuits that guide stem cell differentiation highlighting its importance in embryogenesis and organogenesis.

Pathways

PAX6 is pivotal in the Wnt signaling pathway and retinoic acid signaling. Its interaction within the Wnt pathway orchestrates vital developmental processes including those of eye morphogenesis and brain patterning. The protein collaborates with other transcriptional regulators such as SOX2 and EYA1 within these pathways facilitating the complex network of signals necessary for organ development and cellular identity specification.

Associated diseases and disorders

PAX6 mutations have strong associations with aniridia and congenital eye malformations. Mutations in PAX6 disrupt the transcriptional regulation required for eye development often resulting in severe vision defects and structural anomalies. The intracacy of its involvement extends to disorders like Wilms' tumor wherein its altered expression or function in conjunction with proteins such as WT1 may contribute to oncogenesis. Scientists frequently use PAX6 staining to investigate these conditions and better understand their molecular underpinnings.