COL17A1
MIM.113811 10q24.3
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Collagen XVII, or BP180, is a type II transmembrane protein that is a structural component of hemidesmosomes, multiprotein complexes that mediate the adhesion of epidermal keratinocytes to the underlying basement membrane.
Pathology
target for auto-antibody in bullous pemphigoid
germline mutations in
- generalized atrophic benign epidermolysis bullosa (MIM.226650)
See also
BPAG1
COL17s
collagens
References
Hirako Y, Owaribe K. Hemidesmosomes and their unique transmembrane protein BP180. Microsc Res Tech. 1998 Nov 1;43(3):207-17. PMID: #9840798#