Collagen alpha-1(VII) chain (COL7A1) (COL7A1)

Type VII collagen, encoded by the COL7A1 gene, is the primary structural component of anchoring fibrils that secure the epidermal basement membrane to the underlying papillary dermis (UniProt P12133). It is synthesized by both keratinocytes and dermal fibroblasts as a procollagen precursor, which then assembles into homotrimers and subsequently into centrosymmetric dimers that form the large bundles known as anchoring fibrils (PubMed: 28258333). These fibrils provide essential mechanical stability to the skin, preventing the separation of the epidermis and dermis under friction or minor trauma. Mutations in the COL7A1 gene lead to dystrophic epidermolysis bullosa (DEB), a severe blistering disorder characterized by skin fragility, chronic wounding, and a high risk of aggressive squamous cell carcinoma (NIH: GeneReviews - DEB). Additionally, Type VII collagen is the target of autoantibodies in epidermolysis bullosa acquisita (EBA), an acquired autoimmune blistering disease (PubMed: 30103514). Therapeutic strategies focus on restoring functional Type VII collagen through gene therapy, such as the FDA-approved beremagene geperpavec, or through protein replacement and cell-based therapies aimed at stabilizing the dermal-epidermal junction.

Other names

Type VII collagenAnchoring fibril proteinLC collagenDermal-epidermal junction structural complexCOL7A1

Gene replacement therapy (delivering functional COL7A1 gene via viral vectors), protein replacement therapy (supplying recombinant Type VII collagen), and translational read-through of nonsense mutations to restore protein production.