Recombinant protein encompassing a sequence within the center region of human PAX6. The exact sequence is proprietary.
Alternative Names:
AN, AN1, AN2, FVH1, MGDA, WAGR, ASGD5, D11S812E
This gene encodes paired box gene 6, one of many human homologs of the Drosophila melanogaster gene prd. In addition to the hallmark feature of this gene family, a conserved paired box domain, the encoded protein also contains a homeo box domain. Both domains are known to bind DNA, and function as regulators of gene transcription. This gene is expressed in the developing nervous system, and in developing eyes. Mutations in this gene are known to cause ocular disorders such as aniridia and Peters anomaly. Alternatively spliced transcript variants encoding either the same or different isoform have been found for this gene.
