Collagen XVII.
Collagen XVII has been identified as having a role in inherited junctional epidermolysis bullosa non-Herlitz (JEB-other, MIM #226650). The role of collagen XVII in both autoimmune and genetic blistering disorders demonstrates its relevance to dermal-epidermal adhesion. Collagen XVII is a major structural component of the hemidesmosome (HD), a highly specialized multiprotein complex that mediates the anchorage of basal epithelial cells to the underlying basement membrane in stratified, pseudostratified, and transitional epithelia. This article examines the genetic and pathological features of collagen XVII.
Has
Cristina
C
Department of Dermatology, University Medical Center Freiburg, Hauptstr. 7, 79104 Freiburg, Germany. cristina.has@uniklinik-freiburg.de
Kern
Johannes S
JS
D001324:Autoantigens / Q000235:genetics*; D003896:Desmosomes / Q000473:pathology*; D004817:Epidermis / Q000473:pathology*; D004820:Epidermolysis Bullosa / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D009154:Mutation; D024041:Non-Fibrillar Collagens / Q000235:genetics*; D010391:Pemphigoid, Bullous / Q000235:genetics / Q000473:pathology; D000097805:Collagen Type XVII
D001324:Autoantigens; D024041:Non-Fibrillar Collagens; D000097805:Collagen Type XVII