Aliases:This biomarker is also known as:
- SRY-Related HMG-Box Gene 2,
- Transcription Factor SOX2,
- SRY (sex determining region Y)-box 2,
- Transcription Factor SOX-2,
From NCBI Gene: 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]
|QA State:||Under Review|
There are no datasets associated with this biomarker.