| COL8A2 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | COL8A2, FECD, FECD1, PPCD, PPCD2, collagen type VIII alpha 2, collagen type VIII alpha 2 chain | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 120252 MGI: 88464 HomoloGene: 55879 GeneCards: COL8A2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Collagen alpha-2(VIII) chain is a protein that in humans is encoded by the COL8A2 gene.[5][6] Mutations of the gene are linked to posterior polymorphous dystrophy type 2.
References
- 1 2 3 GRCh38: Ensembl release 89: ENSG00000171812 - Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000056174 - Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ 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 (Nov 2001). "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. doi:10.1093/hmg/10.21.2415. PMID 11689488.
- ↑ "Entrez Gene: COL8A2 collagen, type VIII, alpha 2".
Further reading
- Shuttleworth CA (1998). "Type VIII collagen". Int. J. Biochem. Cell Biol. 29 (10): 1145–8. doi:10.1016/S1357-2725(97)00033-2. PMID 9438378.
- Muragaki Y, Jacenko O, Apte S, et al. (1991). "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. doi:10.1016/S0021-9258(20)89508-8. PMID 2019595.
- Muragaki Y, Mattei MG, Yamaguchi N, et al. (1991). "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. doi:10.1111/j.1432-1033.1991.tb15951.x. PMID 2029894.
- Illidge C, Kielty C, Shuttleworth A (1998). "The alpha1(VIII) and alpha2(VIII) chains of type VIII collagen can form stable homotrimeric molecules". J. Biol. Chem. 273 (34): 22091–5. doi:10.1074/jbc.273.34.22091. PMID 9705353.
- Greenhill NS, Rüger BM, Hasan Q, Davis PF (2000). "The alpha1(VIII) and alpha2(VIII) collagen chains form two distinct homotrimeric proteins in vivo". Matrix Biol. 19 (1): 19–28. doi:10.1016/S0945-053X(99)00053-0. PMID 10686422.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Kvansakul M, Bogin O, Hohenester E, Yayon A (2004). "Crystal structure of the collagen alpha1(VIII) NC1 trimer". Matrix Biol. 22 (2): 145–52. doi:10.1016/S0945-053X(02)00119-1. PMID 12782141.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Stephan S, Sherratt MJ, Hodson N, et al. (2004). "Expression and supramolecular assembly of recombinant alpha1(viii) and alpha2(viii) collagen homotrimers". J. Biol. Chem. 279 (20): 21469–77. doi:10.1074/jbc.M305805200. PMID 14990571.
- Kobayashi A, Fujiki K, Murakami A, et al. (2004). "Analysis of COL8A2 gene mutation in Japanese patients with Fuchs' endothelial dystrophy and posterior polymorphous dystrophy". Jpn. J. Ophthalmol. 48 (3): 195–8. doi:10.1007/s10384-003-0063-6. PMID 15175909. S2CID 25291151.
- Yellore VS, Rayner SA, Emmert-Buck L, et al. (2005). "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. doi:10.1167/iovs.04-1321. PMID 15851557.
- Gottsch JD, Sundin OH, Liu SH, et al. (2005). "Inheritance of a novel COL8A2 mutation defines a distinct early-onset subtype of fuchs corneal dystrophy". Invest. Ophthalmol. Vis. Sci. 46 (6): 1934–9. doi:10.1167/iovs.04-0937. PMID 15914606.
- Turner NJ, Murphy MO, Kielty CM, et al. (2006). "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. doi:10.1161/CIRCULATIONAHA.106.635292. PMID 16908762.
- Aldave AJ, Rayner SA, Salem AK, et al. (2006). "No pathogenic mutations identified in the COL8A1 and COL8A2 genes in familial Fuchs corneal dystrophy". Invest. Ophthalmol. Vis. Sci. 47 (9): 3787–90. doi:10.1167/iovs.05-1635. PMID 16936088.
- Zhang C, Bell WR, Sundin OH, et al. (2007). "Immunohistochemistry and electron microscopy of early-onset fuchs corneal dystrophy in three cases with the same L450W COL8A2 mutation". Transactions of the American Ophthalmological Society. 104: 85–97. PMC 1809915. PMID 17471329.
- Aldave AJ, Bourla N, Yellore VS, et al. (2007). "Keratoconus is not associated with mutations in COL8A1 and COL8A2". Cornea. 26 (8): 963–5. doi:10.1097/ICO.0b013e31811dfaf7. PMID 17721297. S2CID 7750546.
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