DescriptionSOX2 is an intronless gene encoding a member of the SRY-related HMG-box (SOX) family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate. The product of the SOX2 gene is required for stem-cell maintenance in the central nervous system, and also regulates gene expression in the stomach. The SOX2 gene lies within an intron of another gene called SOX2 overlapping transcript (SOX2OT). Further, SOX2 protein may act as a transcriptional activator after forming a protein complex with other proteins. Mutations in the SOX2 gene have been associated with bilateral anophthalmia, a severe form of structural eye malformation, optic nerve hypoplasia and syndromic microphthalmia.
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