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Gene Review

COL8A1  -  collagen, type VIII, alpha 1

Homo sapiens

Synonyms: C3orf7, Collagen alpha-1(VIII) chain, Endothelial collagen, MGC9568
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High impact information on COL8A1

  • METHODS: DNA extraction, PCR amplification, and direct sequencing of the COL8A1 and COL8A2 genes was performed in affected and unaffected members of 15 unrelated families with two or more members with late-onset FECD [1].
  • We assessed the associations of the C807T and Glu505Lys variants of the glycoprotein Ia (alpha(2) integrin) subunit of the platelet/endothelial collagen receptor and risk of retinopathy in a population-based survey of 288 diabetic patients in one Swedish community [2].
  • These data suggest that B16-CM acts on endothelial cells, stimulating the digestion of endothelial collagen, and that the reduced content of collagen leads to the hyperpermeability of the endothelial monolayer [3].
  • This endothelial collagen, termed EC, was also found to comprise the major collagen type synthesized by a malignant astrocytoma-derived cell line [4].
  • The complete primary structure of the human alpha 1 (VIII) chain and assignment of its gene (COL8A1) to chromosome 3 [5].

Anatomical context of COL8A1


  1. No pathogenic mutations identified in the COL8A1 and COL8A2 genes in familial Fuchs corneal dystrophy. Aldave, A.J., Rayner, S.A., Salem, A.K., Yoo, G.L., Kim, B.T., Saeedian, M., Sonmez, B., Yellore, V.S. Invest. Ophthalmol. Vis. Sci. (2006) [Pubmed]
  2. Diabetes duration may modify the association between genetic variation in the glycoprotein Ia subunit of the platelet collagen receptor and risk of severe diabetic retinopathy: a working hypothesis. Reiner, A.P., Agardh, E., Teramura, G., Gaur, P., Gaur, L.K., Agardh, C.D. Thromb. Haemost. (2003) [Pubmed]
  3. Effect of tumour cell-conditioned medium on endothelial macromolecular permeability and its correlation with collagen. Utoguchi, N., Mizuguchi, H., Dantakean, A., Makimoto, H., Wakai, Y., Tsutsumi, Y., Nakagawa, S., Mayumi, T. Br. J. Cancer (1996) [Pubmed]
  4. Type VIII collagen. Synthesis by normal and malignant cells in culture. Sage, H., Balian, G., Vogel, A.M., Bornstein, P. Lab. Invest. (1984) [Pubmed]
  5. The complete primary structure of the human alpha 1 (VIII) chain and assignment of its gene (COL8A1) to chromosome 3. Muragaki, Y., Mattei, M.G., Yamaguchi, N., Olsen, B.R., Ninomiya, Y. Eur. J. Biochem. (1991) [Pubmed]
  6. Fuchs corneal dystrophy: aberrant collagen distribution in an L450W mutant of the COL8A2 gene. Gottsch, J.D., Zhang, C., Sundin, O.H., Bell, W.R., Stark, W.J., Green, W.R. Invest. Ophthalmol. Vis. Sci. (2005) [Pubmed]
  7. Endothelial cells from umbilical vein and a hemangioendothelioma secrete basement membrane largely to the exclusion of interstitial procollagens. Sage, H., Bornstein, P. Arteriosclerosis (1982) [Pubmed]
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