Collagen, type VIII, alpha 2 explained

Collagen alpha-2(VIII) chain is a protein that in humans is encoded by the COL8A2 gene.^{[1] [2]} Mutations of the gene are linked to posterior polymorphous dystrophy type 2.

Further reading

• Shuttleworth CA . Type VIII collagen. . Int. J. Biochem. Cell Biol. . 29 . 10 . 1145–8 . 1998 . 9438378 . 10.1016/S1357-2725(97)00033-2 .
• Muragaki Y, Jacenko O, Apte S . The alpha 2(VIII) collagen gene. A novel member of the short chain collagen family located on the human chromosome 1. . J. Biol. Chem. . 266 . 12 . 7721–7 . 1991 . 10.1016/S0021-9258(20)89508-8 . 2019595 . etal. free .
• Muragaki Y, Mattei MG, Yamaguchi N . The complete primary structure of the human alpha 1 (VIII) chain and assignment of its gene (COL8A1) to chromosome 3. . Eur. J. Biochem. . 197 . 3 . 615–22 . 1991 . 2029894 . 10.1111/j.1432-1033.1991.tb15951.x . etal. free .
• Illidge C, Kielty C, Shuttleworth A . The alpha1(VIII) and alpha2(VIII) chains of type VIII collagen can form stable homotrimeric molecules. . J. Biol. Chem. . 273 . 34 . 22091–5 . 1998 . 9705353 . 10.1074/jbc.273.34.22091 . free .
• Greenhill NS, Rüger BM, Hasan Q, Davis PF . The alpha1(VIII) and alpha2(VIII) collagen chains form two distinct homotrimeric proteins in vivo. . Matrix Biol. . 19 . 1 . 19–28 . 2000 . 10686422 . 10.1016/S0945-053X(99)00053-0 .
• Strausberg RL, Feingold EA, Grouse LH . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . etal. free .
• Kvansakul M, Bogin O, Hohenester E, Yayon A . Crystal structure of the collagen alpha1(VIII) NC1 trimer . Matrix Biol. . 22 . 2 . 145–52 . 2004 . 12782141 . 10.1016/S0945-053X(02)00119-1 .
• Ota T, Suzuki Y, Nishikawa T . Complete sequencing and characterization of 21,243 full-length human cDNAs . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . etal. free .
• Stephan S, Sherratt MJ, Hodson N . Expression and supramolecular assembly of recombinant alpha1(viii) and alpha2(viii) collagen homotrimers . J. Biol. Chem. . 279 . 20 . 21469–77 . 2004 . 14990571 . 10.1074/jbc.M305805200 . etal. free .
• Kobayashi A, Fujiki K, Murakami A . Analysis of COL8A2 gene mutation in Japanese patients with Fuchs' endothelial dystrophy and posterior polymorphous dystrophy . Jpn. J. Ophthalmol. . 48 . 3 . 195–8 . 2004 . 15175909 . 10.1007/s10384-003-0063-6 . 25291151 . etal.
• Yellore VS, Rayner SA, Emmert-Buck L . No pathogenic mutations identified in the COL8A2 gene or four positional candidate genes in patients with posterior polymorphous corneal dystrophy . Invest. Ophthalmol. Vis. Sci. . 46 . 5 . 1599–603 . 2005 . 15851557 . 10.1167/iovs.04-1321 . etal. positional candidate gene . free .
• Gottsch JD, Sundin OH, Liu SH . Inheritance of a novel COL8A2 mutation defines a distinct early-onset subtype of fuchs corneal dystrophy . Invest. Ophthalmol. Vis. Sci. . 46 . 6 . 1934–9 . 2005 . 15914606 . 10.1167/iovs.04-0937 . etal. free .
• Turner NJ, Murphy MO, Kielty CM . Alpha2(VIII) collagen substrata enhance endothelial cell retention under acute shear stress flow via an alpha2beta1 integrin-dependent mechanism: an in vitro and in vivo study . Circulation . 114 . 8 . 820–9 . 2006 . 16908762 . 10.1161/CIRCULATIONAHA.106.635292 . etal. free .
• Aldave AJ, Rayner SA, Salem AK . No pathogenic mutations identified in the COL8A1 and COL8A2 genes in familial Fuchs corneal dystrophy . Invest. Ophthalmol. Vis. Sci. . 47 . 9 . 3787–90 . 2006 . 16936088 . 10.1167/iovs.05-1635 . etal. free .
• Zhang C, Bell WR, Sundin OH . Transactions of the American Ophthalmological Society . 104 . 85–97 . 2007 . 17471329 . 1809915 . etal. Immunohistochemistry and electron microscopy of early-onset fuchs corneal dystrophy in three cases with the same L450W COL8A2 mutation .
• Aldave AJ, Bourla N, Yellore VS . Keratoconus is not associated with mutations in COL8A1 and COL8A2 . Cornea . 26 . 8 . 963–5 . 2007 . 17721297 . 10.1097/ICO.0b013e31811dfaf7 . 7750546 . etal.

Notes and References

1. Biswas S, Munier FL, Yardley J, Hart-Holden N, Perveen R, Cousin P, Sutphin JE, Noble B, Batterbury M, Kielty C, Hackett A, Bonshek R, Ridgway A, McLeod D, Sheffield VC, Stone EM, Schorderet DF, Black GC . Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy . Hum Mol Genet . 10 . 21 . 2415–23 . Nov 2001 . 11689488 . 10.1093/hmg/10.21.2415 . free .
2. Web site: Entrez Gene: COL8A2 collagen, type VIII, alpha 2.