Collagen type VII alpha 1 (COL7A1)

Collagen type VII alpha 1 (COL7A1) is a critical structural protein that constitutes the primary component of anchoring fibrils, which secure the epidermis to the underlying dermis. It is synthesized mainly by keratinocytes and fibroblasts and undergoes complex assembly into a triple-helical structure that forms centrosymmetric dimers. These fibrils are essential for maintaining the mechanical integrity of the skin and mucous membranes. Genetic mutations in the COL7A1 gene lead to Dystrophic Epidermolysis Bullosa (DEB), a severe skin fragility disorder characterized by blistering, scarring, and an increased risk of aggressive squamous cell carcinoma. Current therapeutic strategies focus on restoring functional COL7A1 expression through innovative gene therapies, such as the FDA-approved topical gene therapy beremagene geperpavec, as well as protein replacement and cell-based approaches. By stabilizing the basement membrane zone, these treatments aim to facilitate wound healing and prevent the debilitating complications associated with collagen VII deficiency.

Other names

Collagen alpha-1(VII) chainLong-chain collagenLC collagenAnchoring fibril collagenEBD1EBDCTEBR1

Gene replacement therapy via viral vectors (HSV-1) to deliver functional COL7A1 genes; Ex vivo gene-corrected autologous cell therapy; Recombinant protein replacement therapy; Nonsense mutation suppression (read-through) therapy.