Keratin 3
Keratin 3 (also known as KRT3) is a type of keratin protein that is specifically expressed in the corneal epithelium, a layer of cells that covers the front of the eye. This protein plays a crucial role in maintaining the structural integrity of the corneal epithelium and is essential for normal vision.
Structure
Keratin 3 is a type of intermediate filament protein. Like all keratins, it is characterized by a central alpha-helical rod domain that is flanked by non-helical head (N-terminal) and tail (C-terminal) domains. The rod domain is responsible for the formation of coiled-coil dimers, the basic building blocks of the keratin filament network.
Function
The primary function of Keratin 3 is to provide mechanical support to the corneal epithelial cells, helping them resist against mechanical stress. It also plays a role in the regulation of cell growth and differentiation. Mutations in the KRT3 gene can lead to corneal diseases such as Meesmann Corneal Dystrophy.
Clinical significance
Mutations in the KRT3 gene are associated with several corneal diseases. The most common is Meesmann Corneal Dystrophy, a rare genetic disorder characterized by small, bubble-like blisters in the corneal epithelium. Other diseases associated with KRT3 mutations include Epithelial Basement Membrane Dystrophy and Reis-Bücklers corneal dystrophy.
See also
- Keratin
- Corneal epithelium
- Meesmann Corneal Dystrophy
- Epithelial Basement Membrane Dystrophy
- Reis-Bücklers corneal dystrophy
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Contributors: Prab R. Tumpati, MD