AK8
Description
The AK8 gene, also known as Keratin 8, plays a vital role in the formation and maintenance of epithelial tissues, primarily the skin. It encodes a type I keratin protein that forms intermediate filaments, providing structural support and integrity to cells. These filaments are crucial for cell shape, adhesion, and resistance to mechanical stress. AK8 mutations can lead to a range of skin disorders, impacting the health and appearance of the skin.
Associated Diseases
Did you know?
Mutations in the AK8 gene are particularly common in certain populations, such as those with Scandinavian ancestry.
