SOX2

SOX2 is a transcription factor that plays a crucial role in the maintenance of embryonic and neural stem cells. It is a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate.

Function

The SOX2 gene provides instructions for making a protein that is crucial for maintaining embryonic and neural stem cells. This protein ensures these cells can replicate and divide to make more stem cells, or become any type of cell in the body. This process is known as cell differentiation. The SOX2 protein is also important for development of the eyes, brain, and several other parts of the body.

Clinical Significance

Mutations in the SOX2 gene have been associated with bilateral anophthalmia, a severe eye disorder that leads to absence of ocular tissues. Other conditions associated with SOX2 mutations include syndromic microphthalmia and Anterior Pituitary Hypoplasia.

See Also

• SOX gene family
• Transcription factor
• Cell differentiation
• Stem cell
• Anophthalmia
• Microphthalmia
• Anterior Pituitary Hypoplasia

External Links

• SOX2 on the Genetics Home Reference website
• SOX2 on the National Center for Biotechnology Information website