The SOX2 gene provides instructions for making a protein that plays a critical role in the formation of many different tissues and organs during embryonic development. The SOX2 protein is especially important for the development of the eyes. This protein regulates the activity of other genes by attaching (binding) to specific regions of DNA. On the basis of this action, the SOX2 protein is called a transcription factor.
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At least 33 mutations in the SOX2 gene have been found to cause SOX2 anophthalmia syndrome. Some of these mutations prevent the gene from making any SOX2 protein, while others result in the production of an abnormally short, nonfunctional version of the protein. A few mutations change single protein building blocks (amino acids) in the SOX2 protein. All of these mutations disrupt the protein's ability to regulate genes essential for normal development of the eyes and other parts of the body. Abnormal development of these structures causes the signs and symptoms of SOX2 anophthalmia syndrome.
- sex-determining region Y-box 2
- SRY (sex determining region Y)-box 2
- SRY box 2
- SRY-related HMG-box gene 2
- transcription factor SOX2