基因名:
SOX2
产品别名:
ANOP3; MCOPS3; SOX2; SRY-box transcription factor 2; SRY-box transcription factor 2; transcription factor SOX-2; SRY (sex determining region Y)-box 2; SRY-box 2; SRY-related HMG-box gene 2; sex determining region Y-box 2; transcription factor SOX2; 性别决定区Y框蛋白2(SOX2); 胚胎干细胞关键蛋白;
背景信息:
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].