COL17A1 Gene

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1		Vicky Zhou	+ 412 word(s)	412	2020-12-15 07:48:15

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Zhou, V. COL17A1 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5199 (accessed on 22 September 2026).

Zhou V. COL17A1 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5199. Accessed September 22, 2026.

Zhou, Vicky. "COL17A1 Gene" Encyclopedia, https://encyclopedia.pub/entry/5199 (accessed September 22, 2026).

Zhou, V. (2020, December 24). COL17A1 Gene. In Encyclopedia. https://encyclopedia.pub/entry/5199

Zhou, Vicky. "COL17A1 Gene." Encyclopedia. Web. 24 December, 2020.

COL17A1 Gene

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/col17a1

collagen type XVII alpha 1 chain

genes

References

Bauer JW, Lanschuetzer C. Type XVII collagen gene mutations in junctionalepidermolysis bullosa and prospects for gene therapy. Clin Exp Dermatol. 2003Jan;28(1):53-60. Review.
Franzke CW, Has C, Schulte C, Huilaja L, Tasanen K, Aumailley M,Bruckner-Tuderman L. C-terminal truncation impairs glycosylation of transmembranecollagen XVII and leads to intracellular accumulation. J Biol Chem. 2006 Oct6;281(40):30260-8.
Fu CL, Giudice GJ, Van den Bergh F. Protein structural analysis of BP180mutant isoforms linked to non-Herlitz junctional epidermolysis bullosa. J Invest Dermatol. 2006 Jan;126(1):232-4.
Gatalica B, Pulkkinen L, Li K, Kuokkanen K, Ryynänen M, McGrath JA, Uitto J.Cloning of the human type XVII collagen gene (COL17A1), and detection of novelmutations in generalized atrophic benign epidermolysis bullosa. Am J Hum Genet.1997 Feb;60(2):352-65.
Nakamura H, Sawamura D, Goto M, Nakamura H, Kida M, Ariga T, Sakiyama Y,Tomizawa K, Mitsui H, Tamaki K, Shimizu H. Analysis of the COL17A1 in non-Herlitzjunctional epidermolysis bullosa and amelogenesis imperfecta. Int J Mol Med. 2006Aug;18(2):333-7.
Pasmooij AM, Pas HH, Jansen GH, Lemmink HH, Jonkman MF. Localized andgeneralized forms of blistering in junctional epidermolysis bullosa due toCOL17A1 mutations in the Netherlands. Br J Dermatol. 2007 May;156(5):861-70.
Pulkkinen L, Uitto J. Mutation analysis and molecular genetics ofepidermolysis bullosa. Matrix Biol. 1999 Feb;18(1):29-42. Review.
Ruzzi L, Pas H, Posteraro P, Mazzanti C, Didona B, Owaribe K, Meneguzzi G,Zambruno G, Castiglia D, D'Alessio M. A homozygous nonsense mutation in type XVIIcollagen gene (COL17A1) uncovers an alternatively spliced mRNA accounting for an unusually mild form of non-Herlitz junctional epidermolysis bullosa. J InvestDermatol. 2001 Jan;116(1):182-7.
Varki R, Sadowski S, Pfendner E, Uitto J. Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants. J Med Genet. 2006Aug;43(8):641-52.

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Subjects: Genetics & Heredity

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