The OTX2 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 OTX2 gene is part of a family of homeobox genes, which act during early embryonic development to control the formation of many body structures.
The OTX2 protein plays a critical role in regulating the genes that are involved in the development of the eyes and related structures, such as the nerves that carry visual information from the eyes to the brain (optic nerves). The OTX2 protein is also involved in brain development, including the formation of the pituitary gland at the base of the brain. The pituitary gland produces hormones that help control growth, reproduction, and other critical body functions.
Other Names
CPHD6; MCOPS5
Related Genetics Topics
- Septo-optic dysplasia — MedlinePlus Genetics
- Combined pituitary hormone deficiency — MedlinePlus Genetics
- Anophthalmia/Microphthalmia — MedlinePlus Genetics
- Coloboma — MedlinePlus Genetics
Identifiers
- NCBI Gene: 5015
- OMIM: 600037
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
