Gene:
paired box gene 6 (aniridia, keratitis)
Gene ID:
205660
Symbol:
PAX6
Species:
1000
Description:
PAX6 encodes paired box gene 6, one of many human homologues of the Drosophila melanogaster gene prd. In addition to the hallmark feature of this gene family, a conserved paired box domain, PAX6 also contains a homeo box domain. Both domains are known to bind DNA, and function as regulators of gene transcription. PAX6 is expressed in the developing nervous system, and in developing eyes. Mutations in PAX6 are known to cause aniridia as well as Peter's anomoly, both ocular diseases.