collagen type XVII alpha 1 chain
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A COL17A1 gene provides instructions for making a protein that is used to assemble type XVII collagen. Collagens are a family of proteins that strengthen and support connective tissues, such as skin, bone, tendons, and ligaments, throughout the body. In particular, type XVII collagen plays an essential role in strengthening and stabilizing the skin.
Normal function
A COL17A1 gene provides instructions for making a protein that is used to assemble type XVII collagen. Collagens are a family of proteins that strengthen and support connective tissues, such as skin, bone, tendons, and ligaments, throughout the body. In particular, type XVII collagen plays an essential role in strengthening and stabilizing the skin.
The protein produced from the COL17A1 gene is known as a pro-α1(XVII) chain. Three identical pro-α1(XVII) chains twist together to form a triple-stranded, ropelike molecule known as a procollagen. Procollagen molecules are released from the cell and processed by enzymes to remove extra protein segments from the ends. Once these molecules are processed, they arrange themselves into long, thin bundles of mature type XVII collagen.
Type XVII collagen is a major component of hemidesmosomes, which are microscopic structures on the inner surface of the top layer of skin (the epidermis). These structures help to anchor the epidermis to underlying layers of skin. Type XVII collagen is critical for the stability of hemidesmosomes, and therefore it plays an important role in holding the layers of skin together.
Conditions referring to this gene or chromosome
Other names
alpha 1 type XVII collagen
BA16H23.2
BP180
BPAG2
bullous pemphigoid antigen 2 (180kD)
COHA1_HUMAN
collagen type XVII alpha 1
collagen XVII, alpha-1 polypeptide
collagen, type XVII, alpha 1
FLJ60881
KIAA0204
LAD-1
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Leitura adicional e referências
- collagen type XVII alpha 1 chain; MedlinePlus, National Library of Medicine.
- Bauer JW, Lanschuetzer C. Type XVII collagen gene mutations in junctional epidermolysis bullosa and prospects for gene therapy. Clin Exp Dermatol. 2003 Jan;28(1):53-60. doi: 10.1046/j.1365-2230.2003.01192.x.
- Franzke CW, Has C, Schulte C, Huilaja L, Tasanen K, Aumailley M, Bruckner-Tuderman L. C-terminal truncation impairs glycosylation of transmembrane collagen XVII and leads to intracellular accumulation. J Biol Chem. 2006 Oct 6;281(40):30260-8. doi: 10.1074/jbc.M604464200. Epub 2006 Aug 9.
- Fu CL, Giudice GJ, Van den Bergh F. Protein structural analysis of BP180 mutant isoforms linked to non-Herlitz junctional epidermolysis bullosa. J Invest Dermatol. 2006 Jan;126(1):232-4. doi: 10.1038/sj.jid.5700024. No abstract available.
- Gatalica B, Pulkkinen L, Li K, Kuokkanen K, Ryynanen M, McGrath JA, Uitto J. Cloning of the human type XVII collagen gene (COL17A1), and detection of novel mutations 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-Herlitz junctional epidermolysis bullosa and amelogenesis imperfecta. Int J Mol Med. 2006 Aug;18(2):333-7.
- Pasmooij AM, Pas HH, Jansen GH, Lemmink HH, Jonkman MF. Localized and generalized forms of blistering in junctional epidermolysis bullosa due to COL17A1 mutations in the Netherlands. Br J Dermatol. 2007 May;156(5):861-70. doi: 10.1111/j.1365-2133.2006.07730.x. Epub 2007 Jan 30.
- Pulkkinen L, Uitto J. Mutation analysis and molecular genetics of epidermolysis bullosa. Matrix Biol. 1999 Feb;18(1):29-42. doi: 10.1016/s0945-053x(98)00005-5.
- 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 XVII collagen gene (COL17A1) uncovers an alternatively spliced mRNA accounting for an unusually mild form of non-Herlitz junctional epidermolysis bullosa. J Invest Dermatol. 2001 Jan;116(1):182-7. doi: 10.1046/j.1523-1747.2001.00229.x.
- Varki R, Sadowski S, Pfendner E, Uitto J. Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants. J Med Genet. 2006 Aug;43(8):641-52. doi: 10.1136/jmg.2005.039685. Epub 2006 Feb 10.
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