Collagen, type VIII, alpha 1 explained

Collagen alpha-1(VIII) chain is a protein that in humans is encoded by the COL8A1 gene.^{[1] [2]}

This gene encodes one of the two alpha chains of type VIII collagen. The gene product is a short chain collagen and a major component of the basement membrane of the corneal endothelium. The type VIII collagen fibril can be either a homo- or a heterotrimer. Alternatively spliced transcript variants encoding the same isoform have been observed.^[3]

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 .
• Plenz GA, Deng MC, Robenek H, Völker W . Vascular collagens: spotlight on the role of type VIII collagen in atherogenesis. . Atherosclerosis . 166 . 1 . 1–11 . 2003 . 12482545 . 10.1016/S0021-9150(01)00766-3 .
• 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 .
• Hou G, Mulholland D, Gronska MA, Bendeck MP . Type VIII collagen stimulates smooth muscle cell migration and matrix metalloproteinase synthesis after arterial injury. . Am. J. Pathol. . 156 . 2 . 467–76 . 2000 . 10666376 . 1850039 . 10.1016/s0002-9440(10)64751-7.
• Leung EW, Rife L, Smith RE, Kay EP . Extracellular matrix components in retrocorneal fibrous membrane in comparison to corneal endothelium and Descemet's membrane. . Mol. Vis. . 6 . 15–23 . 2000 . 10731515 .
• de Vries CJ, van Achterberg TA, Horrevoets AJ . Differential display identification of 40 genes with altered expression in activated human smooth muscle cells. Local expression in atherosclerotic lesions of smags, smooth muscle activation-specific genes. . J. Biol. Chem. . 275 . 31 . 23939–47 . 2000 . 10823842 . 10.1074/jbc.M910099199 . etal. free .
• Biswas S, Munier FL, Yardley J . 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 . 2002 . 11689488 . 10.1093/hmg/10.21.2415 . etal. free .
• Wistow G, Bernstein SL, Wyatt MK . Expressed sequence tag analysis of human RPE/choroid for the NEIBank Project: over 6000 non-redundant transcripts, novel genes and splice variants. . Mol. Vis. . 8 . 205–20 . 2002 . 12107410 . etal.
• 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 . 139241 . 10.1073/pnas.242603899 . 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 .
• Gerhard DS, Wagner L, Feingold EA . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 528928 . 10.1101/gr.2596504 . etal.
• Rual JF, Venkatesan K, Hao T . Towards a proteome-scale map of the human protein-protein interaction network. . Nature . 437 . 7062 . 1173–8 . 2005 . 16189514 . 10.1038/nature04209 . 2005Natur.437.1173R . 4427026 . etal.
• Lim J, Hao T, Shaw C . A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. . Cell . 125 . 4 . 801–14 . 2006 . 16713569 . 10.1016/j.cell.2006.03.032 . 13709685 . 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.
• 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. Muragaki Y, Mattei MG, Yamaguchi N, Olsen BR, Ninomiya Y . 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 . Jun 1991 . 2029894 . 10.1111/j.1432-1033.1991.tb15951.x . free .
2. Web site: Entrez Gene: COL8A1 collagen, type VIII, alpha 1.
3. Web site: Entrez Gene: COL8A1 collagen, type VIII, alpha 1.