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COL17A1

MIM.113811 10q24.3

Monday 31 January 2005

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#