Paired box gene 6 (Pax6) is a master regulator for eye and brain development. Pax6 mutations or changes in its expression cause a series of ocular diseases including absence of iris, corneal opacity, cataract, glaucoma, abnormal fovea, retinoblastoma, and Wilm's tumor-aniridia-qenital ahormalies-retardation (WAGR). As a transcription factor, it is expressed in the region of anterior surface ectoderm corresponding to the future adenohypophyseal, olfactory and lens placodes, optic vesicle and other parts of the future brain and thus control the development of eye, brain, pituitary grand, nose and pancreas. Pax6 exists in 4 different isoforms, whose functions are subjected to regulation by different post-translation modifications. A complete understanding of the structure and functions of Pax6 and its associations with relevant diseases is helpful for ophthalmologists to investigate the pathogenesis and treatment of implicated ocular diseases caused by Pax6 gene mutation or changing in its expression.

Paired box gene 6; Transcription factor; Humans; Eye abnormalities-causing gene; Mutation; Regulation of gene expression; Brain development; Eye development