Homeobox protein OTX2 is a member of the bicoid sub-family of homeodomain-containing transcription factors. It acts as a transcription factor and is reported to play a role in brain and sensory organ development (1); more specifically, forebrain and eye development (2). The OTX2 is required to determine mesencephalic versus metencephalic (cerebellum/pons) territory during embryogenesis. This function of OTX2 primarily involves positioning and maintaining the mid-hindbrain organizer at the border between midbrain and anterior hindbrain (3). OTX2 is expressed during development in the neuroepithelium of most of the forebrain and midbrain, including the eye domain. In mice, complete elimination of the OTX2 function results in the absence of the forebrain and embryonic lethality (4). Defects in OTX2 are the caused of microphthalmia syndromic type 5, a clinically heterogeneous disorder of the eye formation (5).
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