Description:
A gene that makes a type of collagen that plays an important role in strengthening and supporting the layers of the skin. Mutations (changes) in the COL17A1 gene may cause the skin to become easily damaged. COL17A1 gene mutations have been found in an inherited condition called junctional epidermolysis bullosa. People with this condition have fragile skin that blisters easily and may have an increased risk of developing squamous cell skin cancer.
