SRY (sex determining region Y)-box 2, ANOP3, MCOPS3, MGC2413, SRY (sex determining region Y)-box 2 ANOP3, cb236, Delta EF2a, lcc, MGC148683, RGD1565646, Sex determining region Y box 2, SOX 2, SRY (sex determining region Y) box 2, SRY box containing gene 2, SRY related HMG box 2, SRY related HMG box gene 2, SRY-box 2, Transcription factor SOX 2, ysb.
Summary
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). provided by RefSeq, Jul 2008
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