Collagen type XVII alpha 1 chain (COL17A1) (COL17A1)

Type XVII Collagen (COL17A1), also known as BP180 or BPAG2, is a specialized type II transmembrane protein that functions as a critical structural component of hemidesmosomes in basal keratinocytes [1, 16]. Unlike most collagens that are purely extracellular, Type XVII Collagen spans the plasma membrane, anchoring the intracellular keratin cytoskeleton to the epidermal basement membrane through interactions with plectin, integrin alpha-6 beta-4, and laminin-332 [1, 14]. It plays a fundamental role in maintaining epidermal-dermal adhesion and regulating the behavior of skin stem cells, including their proliferation, migration, and the maintenance of the stem cell niche [8, 9]. In clinical medicine, it is the primary autoantigen in bullous pemphigoid, where autoantibodies trigger its internalization and degradation, leading to subepidermal blistering [16, 18]. Mutations in the COL17A1 gene cause junctional epidermolysis bullosa, a condition characterized by severe skin fragility and alopecia [4, 13]. Emerging therapeutic strategies focus on restoring Type XVII Collagen levels via gene therapy or recombinant protein administration to treat blistering disorders and counteract skin aging [7, 14]. Additionally, its shed ectodomain, measured as the PRO-C17 biomarker, is used to monitor epithelial damage and prognosis in various cancers, including metastatic colorectal cancer [17, 19].

Other names

BP180BPAG2Bullous pemphigoid antigen 2LAD-1EREDJEB4180 kDa bullous pemphigoid antigen 2

Restoration of hemidesmosome structural integrity; inhibition of proteolytic ectodomain shedding; modulation of AKT/mTOR and Wnt signaling pathways; neutralization of autoantibody-induced internalization.