How Does Pax6 Cause Human Blindness

Decent Essays
Cataract, the opacification of the eye lens is one of the leading causes of human blindness. There are several studies report tantalizing results claiming that PAX6 is the universal master gene control eye development in vertebrates and invertebrates. Pax6 regulates the expression of a broad range of molecules, including transcription factors, cell adhesion and short-range cell–cell signaling molecules, hormones and structural proteins. It has been implicated in a number of key biological processes, including cell proliferation, migration, adhesion and signaling both in normal development and in oncogenesis. Interestingly, normal development of the mammalian eye is dependent on normal Pax6 dosage, as heterozygotes suffer from pan-ocular disorders

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