SOX2

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SOX2

A gene on chromosome 3q26.3-q27 that encodes a member of the SOX (SRY-related HMG-box) family of transcription factors, which regulate embryonic development and determine cell fate. SOX2 is required for stem-cell maintenance in the CNS and regulates gene expression in the stomach.

Molecular pathology
SOX2 mutations are associated with optic nerve hypoplasia and syndromic microphthalmia.