Collagen alpha-1(XVII) chain (COL17A1)

Collagen alpha-1(XVII) chain, also known as BP180 or COL17A1, is a type II transmembrane protein that serves as a critical structural component of hemidesmosomes in the skin. It functions as a cell-matrix adhesion molecule, anchoring basal keratinocytes to the underlying basement membrane by interacting with plectin, integrin alpha-6 beta-4, and laminin-332. This protein is the primary autoantigen in bullous pemphigoid, where autoantibodies (typically IgG or IgE) target the extracellular NC16A domain, leading to inflammatory cell recruitment and dermal-epidermal separation. Mutations in the COL17A1 gene result in junctional epidermolysis bullosa, a condition characterized by severe skin fragility and blistering. Beyond its structural role, COL17 is involved in regulating keratinocyte motility, stem cell maintenance, and signaling pathways such as AKT/mTOR, which can influence cancer progression and skin aging. Therapeutic strategies include gene editing to restore function in genetic disorders and immunosuppressive treatments to mitigate the autoimmune response in pemphigoid diseases.

Other names

BP180BPAG2180 kDa bullous pemphigoid antigen 2Bullous pemphigoid antigen 2LAD-1Type XVII collagen alpha 1Collagen type XVII alpha 1 chain

Autoantibody-mediated degradation, Complement activation, Proteolytic shedding (ADAM9/10), Gene restoration, AKT/mTOR pathway deactivation