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

Type VII collagen is a major structural protein and the primary component of anchoring fibrils, which are specialized structures that tether the epidermal basement membrane to the underlying dermal extracellular matrix (PubMed, 2023). It is encoded by the COL7A1 gene and is synthesized by both keratinocytes and fibroblasts (UniProt, 2024). The protein forms anti-parallel dimers that aggregate into anchoring fibrils, providing the mechanical strength necessary to resist shearing forces (PubMed, 2023). Mutations in this gene lead to Dystrophic Epidermolysis Bullosa (DEB), a severe skin-blistering disorder characterized by extreme skin fragility and chronic wounding (NIH, 2023). Therapeutic strategies focus on restoring functional Type VII collagen through gene therapy, protein replacement, or cell-based approaches (FDA, 2023). The first FDA-approved gene therapy for DEB, Beremagene geperpavec (Vyjuvek), works by delivering functional copies of the COL7A1 gene directly to the skin to promote wound healing and re-establish skin integrity (Krystal Biotech, 2023).

Other names

Collagen VIIAnchoring fibril proteinLC collagenLong-chain collagen

Restoration of functional Type VII collagen through gene replacement, protein replacement, or cell-based therapy to re-establish anchoring fibrils at the dermal-epidermal junction.