This intronless gene encodes 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 this gene is required for stem-cell maintenance in the central nervous system, and also regulates gene expression in the stomach. Mutations in this gene have been associated with optic nerve hypoplasia and with syndromic microphthalmia, a severe form of structural eye malformation. This gene lies within an intron of another gene called SOX2 overlapping transcript (SOX2OT).
Pathway
Cardiac Progenitor Differentiation; Hippo signaling pathway; POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation; SIDS Susceptibility Pathways
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