TEX2
Tex2 Gene: The Key to Understanding Corneal Dystrophies
Description
The TEX2 gene, located on the short arm of chromosome 5 (5p15.33), encodes a transcriptional coactivator known as TEX2. This protein plays a crucial role in the regulation of gene expression, specifically in the development and maintenance of the cornea.
Associated Diseases
Mutations in the TEX2 gene have been linked to various corneal dystrophies, which are inherited eye conditions characterized by the gradual clouding or thinning of the cornea. These include:
- Lattice corneal dystrophy (LCD): A condition causing lattice-like opacities in the cornea, leading to blurred vision and impaired night vision.
- Granular corneal dystrophy type 1 (GCD1): Characterized by small, granular deposits in the cornea, resulting in reduced visual acuity and sensitivity.
- Avellino corneal dystrophy (ACD): A rare form of corneal dystrophy characterized by progressive thinning and cloudiness of the cornea, causing severe visual impairment.
Did you Know ?
LCD, the most common form of corneal dystrophy associated with TEX2 mutations, affects approximately 1 in 5,000 people worldwide. It typically begins in adolescence or adulthood and gradually worsens over time.
