The PAX6 gene belongs to a family of genes that play a critical role in the formation of tissues and organs before birth. PAX genes are also important for the normal function of certain cells after birth. To carry out these roles, the PAX genes provide instructions for making proteins that bind to specific areas of DNA and help control the activity (expression) of particular genes. Proteins that perform this role are called transcription factors.
Before birth, the PAX6 protein regulates genes involved in the formation of the eyes, the brain and spinal cord (central nervous system), and the pancreas. Within the brain, the PAX6 protein is involved in the development of a specialized group of cells that process smell (the olfactory bulb). Additionally, the PAX6 protein controls many aspects of eye development. After birth, the PAX6 protein is found in many different eye structures where it regulates gene activity.
Other Names
Related Genetics Topics
- WAGR syndrome — MedlinePlus Genetics
- Aniridia — MedlinePlus Genetics
- Anophthalmia/Microphthalmia — MedlinePlus Genetics
- Coloboma — MedlinePlus Genetics
- Peters anomaly — MedlinePlus Genetics
Identifiers
- NCBI Gene: 5080
- OMIM: 607108
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
