COL7A1 : collagen type VII alpha 1 chain
Description
The COL7A1 gene provides instructions for making collagen type VII, a protein essential for anchoring the epidermis (outer layer of skin) to the dermis (inner layer). This anchoring function is critical for maintaining skin integrity and preventing blistering. Collagen type VII also plays a role in wound healing and tissue repair. Mutations in the COL7A1 gene can disrupt collagen type VII production, leading to a range of skin disorders.
Associated Diseases
- Dystrophic Epidermolysis Bullosa (DEB): A group of genetic disorders characterized by fragile skin and blistering, ranging in severity from mild to severe.
- Recessive Dystrophic Epidermolysis Bullosa (RDEB): The most severe form of DEB, often resulting in extensive blistering, scarring, and impaired wound healing.
- Dominant Dystrophic Epidermolysis Bullosa (DDEB): A less severe form of DEB, typically characterized by milder blistering and scarring.
- Kindler Syndrome: A rare genetic disorder featuring skin fragility, blistering, and photosensitivity.
- Epidermolytic Hyperkeratosis: A skin disorder causing thickened skin, scaling, and blistering.
Did you know?
Mutations in the COL7A1 gene can affect the structure of collagen type VII, leading to the formation of abnormal fibers that lack the necessary anchoring strength.
