Paired box protein Pax-6,Aniridia type II protein,OcmuLorhombin,
Cell localization:Nucleus.This gene encodes a homeobox and paired domain-containing protein that binds DNA and functions as a regµLator of transcription. Activity of this protein is key in the development of neural tissues, particµLarly the eye. This gene is regµLated by mµLtiple enhancers located up to hundreds of kilobases distant from this locus. Mutations in this gene or in the enhancer regions can cause ocµLar disorders such as aniridia and Peters anomaly. Use of alternate promoters and alternative splicing resµLt in mµLtiple transcript variants encoding different isoforms. [provided by RefSeq, JµL 2015],
