CHST6 explained

Carbohydrate sulfotransferase 6 is an enzyme that in humans is encoded by the CHST6 gene.^{[1] [2] [3]}

It codes for an enzyme necessary for the production of keratan sulfate. Mutations in the gene lead to macular corneal dystrophy.

Further reading

• Bernstein HB, Compans RW . Sulfation of the human immunodeficiency virus envelope glycoprotein. . J. Virol. . 66 . 12 . 6953–9 . 1992 . 1433500 . 10.1128/JVI.66.12.6953-6959.1992. 240329 .
• Shilatifard A, Merkle RK, Helland DE . Complex-type N-linked oligosaccharides of gp120 from human immunodeficiency virus type 1 contain sulfated N-acetylglucosamine. . J. Virol. . 67 . 2 . 943–52 . 1993 . 8419650 . 10.1128/JVI.67.2.943-952.1993. 237448 . etal.
• Uchimura K, Fasakhany F, Kadomatsu K . Diversity of N-acetylglucosamine-6-O-sulfotransferases: molecular cloning of a novel enzyme with different distribution and specificities. . Biochem. Biophys. Res. Commun. . 274 . 2 . 291–6 . 2000 . 10913333 . 10.1006/bbrc.2000.3141 . etal.
• Spiro MJ, Spiro RG . Sulfation of the N-linked oligosaccharides of influenza virus hemagglutinin: temporal relationships and localization of sulfotransferases. . Glycobiology . 10 . 11 . 1235–42 . 2001 . 11087716 . 10.1093/glycob/10.11.1235 . free .
• Liu NP, Dew-Knight S, Rayner M . Mutations in corneal carbohydrate sulfotransferase 6 gene (CHST6) cause macular corneal dystrophy in Iceland. . Mol. Vis. . 6 . 261–4 . 2001 . 11139648 . etal.
• Hemmerich S, Lee JK, Bhakta S . Chromosomal localization and genomic organization for the galactose/ N-acetylgalactosamine/N-acetylglucosamine 6-O-sulfotransferase gene family. . Glycobiology . 11 . 1 . 75–87 . 2001 . 11181564 . 10.1093/glycob/11.1.75 . etal. free .
• Akama TO, Nakayama J, Nishida K . Human corneal GlcNac 6-O-sulfotransferase and mouse intestinal GlcNac 6-O-sulfotransferase both produce keratan sulfate. . J. Biol. Chem. . 276 . 19 . 16271–8 . 2001 . 11278593 . 10.1074/jbc.M009995200 . etal. free .
• Bartes A, Bhakta S, Hemmerich S . Sulfation of endothelial mucin by corneal keratan N-acetylglucosamine 6-O-sulfotransferase (GST-4beta). . Biochem. Biophys. Res. Commun. . 282 . 4 . 928–33 . 2001 . 11352640 . 10.1006/bbrc.2001.4668 .
• El-Ashry MF, Abd El-Aziz MM, Wilkins S . Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophy. . Invest. Ophthalmol. Vis. Sci. . 43 . 2 . 377–82 . 2002 . 11818380 . etal.
• Akama TO, Misra AK, Hindsgaul O, Fukuda MN . Enzymatic synthesis in vitro of the disulfated disaccharide unit of corneal keratan sulfate. . J. Biol. Chem. . 277 . 45 . 42505–13 . 2003 . 12218059 . 10.1074/jbc.M207412200 . free .
• 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 .
• Niel F, Ellies P, Dighiero P . Truncating mutations in the carbohydrate sulfotransferase 6 gene (CHST6) result in macular corneal dystrophy. . Invest. Ophthalmol. Vis. Sci. . 44 . 7 . 2949–53 . 2003 . 12824236 . 10.1167/iovs.02-0740 . etal.
• Iida-Hasegawa N, Furuhata A, Hayatsu H . Mutations in the CHST6 gene in patients with macular corneal dystrophy: immunohistochemical evidence of heterogeneity. . Invest. Ophthalmol. Vis. Sci. . 44 . 8 . 3272–7 . 2003 . 12882769 . 10.1167/iovs.02-0910 . etal.
• Ha NT, Chau HM, Cung le X . Mutation analysis of the carbohydrate sulfotransferase gene in Vietnamese with macular corneal dystrophy. . Invest. Ophthalmol. Vis. Sci. . 44 . 8 . 3310–6 . 2003 . 12882775 . 10.1167/iovs.03-0031 . etal.
• Ha NT, Chau HM, Cung le X . Identification of novel mutations of the CHST6 gene in Vietnamese families affected with macular corneal dystrophy in two generations. . Cornea . 22 . 6 . 508–11 . 2003 . 12883341 . 10.1097/00003226-200308000-00004 . 25039164 . etal.
• Warren JF, Aldave AJ, Srinivasan M . Novel mutations in the CHST6 gene associated with macular corneal dystrophy in southern India. . Arch. Ophthalmol. . 121 . 11 . 1608–12 . 2003 . 14609920 . 10.1001/archopht.121.11.1608 . etal.
• Sultana A, Sridhar MS, Jagannathan A . Novel mutations of the carbohydrate sulfotransferase-6 (CHST6) gene causing macular corneal dystrophy in India. . Mol. Vis. . 9 . 730–4 . 2004 . 14735064 . etal.
• Abbruzzese C, Kuhn U, Molina F . Novel mutations in the CHST6 gene causing macular corneal dystrophy. . Clin. Genet. . 65 . 2 . 120–5 . 2004 . 14984470 . 10.1111/j.0009-9163.2004.00191.x . 32667901 . etal.

Notes and References

1. Vance JM, Jonasson F, Lennon F, Sarrica J, Damji KF, Stauffer J, Pericak-Vance MA, Klintworth GK . Linkage of a gene for macular corneal dystrophy to chromosome 16 . Am J Hum Genet . 58 . 4 . 757–62 . Jul 1996 . 8644739 . 1914688 .
2. Akama TO, Nishida K, Nakayama J, Watanabe H, Ozaki K, Nakamura T, Dota A, Kawasaki S, Inoue Y, Maeda N, Yamamoto S, Fujiwara T, Thonar EJ, Shimomura Y, Kinoshita S, Tanigami A, Fukuda MN . Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene . Nat Genet . 26 . 2 . 237–41 . Nov 2000 . 11017086 . 10.1038/79987 . 25547752 .
3. Web site: Entrez Gene: CHST6 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6.