COL17A1 gene encodes the alpha chain of type XVII collagen. Collagen XVII is a transmembrane protein, which is an integral part of hemidesmosomes and contribute to the attachment of epidermis of skin to the underlying basement membrane.
Mutations in COL17A1 are associated with generalized atrophic benign epidermolysis bullosa (GABEB) and junctional epidermolysis bullosa.