Gene Review:
CHST6 - carbohydrate (N-acetylglucosamine 6-O)...
Homo sapiens
Synonyms:
C-GlcNAc6ST, Carbohydrate sulfotransferase 6, Corneal N-acetylglucosamine-6-O-sulfotransferase, GST4-beta, Galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 4-beta, ...
Iida-Hasegawa,
Furuhata,
Hayatsu,
Murakami,
Fujiki,
Nakayasu,
Kanai,
Akama,
Misra,
Hindsgaul,
Fukuda,
El-Ashry,
Abd El-Aziz,
Wilkins,
Cheetham,
Wilkie,
Hardcastle,
Halford,
Bayoumi,
Ficker,
Tuft,
Bhattacharya,
Ebenezer,
Aldave,
Yellore,
Thonar,
Udar,
Warren,
Yoon,
Cohen,
Rapuano,
Laibson,
Margolis,
Small,
El-Ashry,
Abd El-Aziz,
Shalaby,
Wilkins,
Poopalasundaram,
Cheetham,
Tuft,
Hardcastle,
Bhattacharya,
Ebenezer,
Ha,
Chau,
Cung,
Thanh,
Fujiki,
Murakami,
Hiratsuka,
Kanai,
Klintworth,
Smith,
Bowling,
Liu,
Smith,
Bowling,
Jonasson,
Klintworth,
- Novel mutations in the CHST6 gene causing macular corneal dystrophy. Abbruzzese, C., Kuhn, U., Molina, F., Rama, P., De Luca, M. Clin. Genet. (2004)
- Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene. Akama, T.O., Nishida, K., Nakayama, J., Watanabe, H., Ozaki, K., Nakamura, T., Dota, A., Kawasaki, S., Inoue, Y., Maeda, N., Yamamoto, S., Fujiwara, T., Thonar, E.J., Shimomura, Y., Kinoshita, S., Tanigami, A., Fukuda, M.N. Nat. Genet. (2000)
- Enzymatic synthesis in vitro of the disulfated disaccharide unit of corneal keratan sulfate. Akama, T.O., Misra, A.K., Hindsgaul, O., Fukuda, M.N. J. Biol. Chem. (2002)
- Human corneal GlcNac 6-O-sulfotransferase and mouse intestinal GlcNac 6-O-sulfotransferase both produce keratan sulfate. Akama, T.O., Nakayama, J., Nishida, K., Hiraoka, N., Suzuki, M., McAuliffe, J., Hindsgaul, O., Fukuda, M., Fukuda, M.N. J. Biol. Chem. (2001)
- Mutations in the CHST6 gene in patients with macular corneal dystrophy: immunohistochemical evidence of heterogeneity. Iida-Hasegawa, N., Furuhata, A., Hayatsu, H., Murakami, A., Fujiki, K., Nakayasu, K., Kanai, A. Invest. Ophthalmol. Vis. Sci. (2003)
- Mutation analysis of the carbohydrate sulfotransferase gene in Vietnamese with macular corneal dystrophy. Ha, N.T., Chau, H.M., Cung, l.e. .X., Thanh, T.K., Fujiki, K., Murakami, A., Hiratsuka, Y., Kanai, A. Invest. Ophthalmol. Vis. Sci. (2003)
- CHST6 mutations in North American subjects with macular corneal dystrophy: a comprehensive molecular genetic review. Klintworth, G.K., Smith, C.F., Bowling, B.L. Mol. Vis. (2006)
- Macular corneal dystrophy types I and II are caused by distinct mutations in the CHST6 gene in Iceland. Liu, N.P., Smith, C.F., Bowling, B.L., Jonasson, F., Klintworth, G.K. Mol. Vis. (2006)
- Truncating mutations in the carbohydrate sulfotransferase 6 gene (CHST6) result in macular corneal dystrophy. Niel, F., Ellies, P., Dighiero, P., Soria, J., Sabbagh, C., San, C., Renard, G., Delpech, M., Valleix, S. Invest. Ophthalmol. Vis. Sci. (2003)
- Novel mutations in the carbohydrate sulfotransferase gene (CHST6) in American patients with macular corneal dystrophy. Aldave, A.J., Yellore, V.S., Thonar, E.J., Udar, N., Warren, J.F., Yoon, M.K., Cohen, E.J., Rapuano, C.J., Laibson, P.R., Margolis, T.P., Small, K. Am. J. Ophthalmol. (2004)
- Sulfation of endothelial mucin by corneal keratan N-acetylglucosamine 6-O-sulfotransferase (GST-4beta). Bartes, A., Bhakta, S., Hemmerich, S. Biochem. Biophys. Res. Commun. (2001)
- Chromosomal localization and genomic organization for the galactose/ N-acetylgalactosamine/N-acetylglucosamine 6-O-sulfotransferase gene family. Hemmerich, S., Lee, J.K., Bhakta, S., Bistrup, A., Ruddle, N.R., Rosen, S.D. Glycobiology (2001)
- Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophy. El-Ashry, M.F., Abd El-Aziz, M.M., Wilkins, S., Cheetham, M.E., Wilkie, S.E., Hardcastle, A.J., Halford, S., Bayoumi, A.Y., Ficker, L.A., Tuft, S., Bhattacharya, S.S., Ebenezer, N.D. Invest. Ophthalmol. Vis. Sci. (2002)
- Novel CHST6 nonsense and missense mutations responsible for macular corneal dystrophy. El-Ashry, M.F., Abd El-Aziz, M.M., Shalaby, O., Wilkins, S., Poopalasundaram, S., Cheetham, M., Tuft, S.J., Hardcastle, A.J., Bhattacharya, S.S., Ebenezer, N.D. Am. J. Ophthalmol. (2005)