Recombinant Human VAX1 protein

Supplementary info

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

Activity summary

VAX1 also known as Ventral Anterior Homeobox 1 is a transcription factor with a molecular mass of approximately 33 kDa. This protein is expressed mainly in the developing and adult central nervous system where it plays an essential role in neuron formation and differentiation. Outside the central nervous system VAX1 is also found in ocular tissues reflecting its engagement in eye development processes.

Biological function summary

The VAX1 protein interacts with other transcriptional regulators to support the development and patterning of the ventral forebrain and optic structures. VAX1 does not typically function as part of a larger complex but it can influence other genes responsible for the establishment of neuronal and optical tissue characteristics. Its regulation of gene expression is critical for the proper formation of these structures during embryonic development.

Pathways

VAX1 plays a critical role in the Sonic Hedgehog (Shh) and Wnt signaling pathways both of which guide developmental processes. These pathways involve interactions with proteins such as GLI1 in the Shh pathway and β-catenin in the Wnt pathway. VAX1 modulates expression patterns to direct forebrain regionalization and eye development relying on these signaling pathways for coordinated development cues.

Associated diseases and disorders

Mutations or dysregulation of VAX1 have links to anophthalmia a condition characterized by the absence of one or both eyes due to its role in ocular development. Furthermore its functions relate to Kallmann syndrome a disorder characterized by impaired sense of smell and delayed puberty because of its involvement in the proper migration of olfactory neurons. In these contexts VAX1's interaction with the FGFR1 protein has significance highlighting its influence within developmental processes tied to these disorders.