The SOX2 gene provides instructions for making a type of protein called a transcription factor. Transcription factors attach (bind) to specific regions of DNA and help regulate the activity of other genes.
The SOX2 protein plays a critical role in regulating the genes that are involved in the formation of many different tissues and organs during embryonic development. The SOX2 protein is especially important for the development of the eyes.
Other Names
ANOP3; MCOPS3; SRY box 2; SRY-related HMG-box gene 2
Related Genetics Topics
- Anophthalmia/microphthalmia-esophageal atresia syndrome — MedlinePlus Genetics
- Septo-optic dysplasia — MedlinePlus Genetics
- Combined pituitary hormone deficiency — MedlinePlus Genetics
- Anophthalmia/Microphthalmia — MedlinePlus Genetics
- Coloboma — MedlinePlus Genetics
- Peters anomaly — MedlinePlus Genetics
Identifiers
- NCBI Gene: 6657
- OMIM: 184429
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
