PAX6, also known as Paired Box 6, is a highly conserved transcription factor that plays a crucial role in the development of multiple organs and tissues, particularly the eyes, brain, and pancreas. It is involved in the regulation of gene expression during embryonic development and is essential for the formation of the eyes, central nervous system, and endocrine pancreas. Mutations in the PAX6 gene can lead to a variety of conditions, including aniridia (absence of the iris), microphthalmia (small eyes), and coloboma (gaps in eye structures). Additionally, PAX6 is implicated in the development of the olfactory bulb and the regulation of neuronal migration and cell proliferation. Its importance is further highlighted by its role in maintaining the normal function of certain cells after birth.
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