VSX2
Description
The VSX2 gene, plays a crucial role in the development of the eye, particularly in the formation of the optic cup, the precursor to the retina and optic nerve. It encodes a transcription factor, a protein that binds to DNA and regulates gene expression, essential for the proper formation and function of the eye. Mutations in VSX2 can lead to a spectrum of eye disorders, highlighting its significance in normal eye development.
Associated Diseases
- Anophthalmia (absence of the eye)
- Microphthalmia (small eye)
- Coloboma (gap or hole in the eye structure)
- Peters anomaly (clouding of the cornea and iris)
- Rieger syndrome (ocular and dental abnormalities)
- Sclerocornea (thickening of the cornea)
- Axenfeld-Rieger syndrome (a group of eye and facial malformations)
Did you know?
VSX2 is also expressed in the brain, suggesting a possible role in the development of other tissues.
