Keratin 2A
Keratin 2A (also known as KRT2A) is a type of keratin protein that is encoded by the KRT2A gene in humans. It is a member of the keratin family, which is a group of fibrous structural proteins that are essential components of the epithelial cells in animals.
Structure[edit | edit source]
Keratin 2A is a type II keratin, which means it is acidic and forms heterodimers with type I keratins to create the intermediate filaments in epithelial cells. These intermediate filaments are crucial for maintaining the structural integrity of the cells and tissues.
Function[edit | edit source]
The primary function of Keratin 2A is to provide mechanical support and protection to the epithelial cells. It is predominantly expressed in the upper spinous layer of the epidermis, where it plays a vital role in the formation of the skin's protective barrier.
Clinical significance[edit | edit source]
Mutations in the KRT2A gene can lead to various skin disorders, including ichthyosis bullosa of Siemens and epidermolytic hyperkeratosis. These conditions are characterized by skin blistering, hyperkeratosis (thickening of the skin), and scaling.
See also[edit | edit source]
References[edit | edit source]
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Contributors: Prab R. Tumpati, MD
