PAX genes encode nuclear transcription factors which are regarded as major controllers of developmental processes in both vertebrates and invertebrates. Mutations in murine PAX genes underlie three natural mouse alleles and several corresponding human syndromes (aniridia, foveal hypoplasia and Peters and quote; anomaly). Murine PAX genes have been shown to be proto-oncogenes. Furthermore, human PAX genes have recently been demonstrated to play an influential part in some common human cancers such as brain tumors and lymphomas.
All PAX genes encode a DNA-binding domain termed the paired domain and in addition some also encode a second binding domain--the paired type homeobox. PAX6 is involved in the early development of the optical vesicle and has been shown to interact with Six3, another important visual development protein.
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