SOX2 is 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. SOX2 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. The role of SOX2 in embryonic development suggested that it might be useful in the creation of stem cells that might be useful in cell replacement therapies in the treatment of degenerative diseases. Artificial stem cells, termed induced pluripotent stem (iPS) cells, can be created by expressing SOX2 and the transcription factors POU5F1, Klf4 and Lin28 along with c-Myc in mouse fibroblasts. Other experiments have shown that iPS cells could be generated using expression plasmids expressing POU5F1, SOX2, KlfF4 and c-Myc, eliminating the need for virus introduction.
