TEKT5
The TEKT5 Gene: Unlocking the Secrets of Eye Health
Description
The TEKT5 gene, located on chromosome 12, encodes a protein called tectonic family member 5. This protein plays a vital role in the development and maintenance of the eye's structure and function. Specifically, TEKT5 is involved in the formation and maintenance of the corneal stroma, the transparent layer of the cornea that protects the eye's interior.
Associated Diseases
Mutations in the TEKT5 gene have been linked to several eye conditions, including:
- Keratoconus: A progressive eye disorder characterized by the thinning and bulging of the cornea, leading to blurred vision and potential vision loss.
- Pellucid marginal corneal degeneration: A rare condition that affects the peripheral cornea, causing it to become thin and weak.
- Corneal endothelial dystrophies: A group of genetic disorders that affect the innermost layer of the cornea, leading to clouding and vision loss.
Did you Know ?
According to the National Eye Institute, keratoconus affects approximately 1 in 500 people worldwide. It is more common in males than females and typically begins in adolescence or early adulthood.
