CHST6
| CHST6 | |||||||||||||||||
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| Identifiers | |||||||||||||||||
| Aliases | CHST6, MCDC1, carbohydrate sulfotransferase 6 | ||||||||||||||||
| External IDs | MGI: 1931825 HomoloGene: 56927 GeneCards: CHST6 | ||||||||||||||||
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| Orthologs | |||||||||||||||||
| Species | Human | Mouse | |||||||||||||||
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| Ensembl | |||||||||||||||||
| UniProt | |||||||||||||||||
| RefSeq (mRNA) | |||||||||||||||||
| RefSeq (protein) | |||||||||||||||||
| Location (UCSC) | Chr 16: 75.47 – 75.5 Mb | Chr 8: 111.89 – 111.91 Mb | |||||||||||||||
| PubMed search | [1] | [2] | |||||||||||||||
| Wikidata | |||||||||||||||||
| View/Edit Human | View/Edit Mouse |
Carbohydrate sulfotransferase 6 is an enzyme that in humans is encoded by the CHST6 gene.[3][4][5]
It codes for an enzyme necessary for the production of keratan sulfate. Mutations in the gene lead to macular corneal dystrophy.
References
- ↑ "Human PubMed Reference:".
- ↑ "Mouse PubMed Reference:".
- ↑ Vance JM, Jonasson F, Lennon F, Sarrica J, Damji KF, Stauffer J, Pericak-Vance MA, Klintworth GK (Jul 1996). "Linkage of a gene for macular corneal dystrophy to chromosome 16". Am J Hum Genet. 58 (4): 757–62. PMC 1914688
. PMID 8644739. - ↑ 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 (Nov 2000). "Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene". Nat Genet. 26 (2): 237–41. doi:10.1038/79987. PMID 11017086.
- ↑ "Entrez Gene: CHST6 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6".
Further reading
- Bernstein HB, Compans RW (1992). "Sulfation of the human immunodeficiency virus envelope glycoprotein.". J. Virol. 66 (12): 6953–9. PMC 240329. PMID 1433500.
- Shilatifard A, Merkle RK, Helland DE, et al. (1993). "Complex-type N-linked oligosaccharides of gp120 from human immunodeficiency virus type 1 contain sulfated N-acetylglucosamine.". J. Virol. 67 (2): 943–52. PMC 237448. PMID 8419650.
- Uchimura K, Fasakhany F, Kadomatsu K, et al. (2000). "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. doi:10.1006/bbrc.2000.3141. PMID 10913333.
- Spiro MJ, Spiro RG (2001). "Sulfation of the N-linked oligosaccharides of influenza virus hemagglutinin: temporal relationships and localization of sulfotransferases.". Glycobiology. 10 (11): 1235–42. doi:10.1093/glycob/10.11.1235. PMID 11087716.
- Liu NP, Dew-Knight S, Rayner M, et al. (2001). "Mutations in corneal carbohydrate sulfotransferase 6 gene (CHST6) cause macular corneal dystrophy in Iceland.". Mol. Vis. 6: 261–4. PMID 11139648.
- Hemmerich S, Lee JK, Bhakta S, et al. (2001). "Chromosomal localization and genomic organization for the galactose/ N-acetylgalactosamine/N-acetylglucosamine 6-O-sulfotransferase gene family.". Glycobiology. 11 (1): 75–87. doi:10.1093/glycob/11.1.75. PMID 11181564.
- Akama TO, Nakayama J, Nishida K, et al. (2001). "Human corneal GlcNac 6-O-sulfotransferase and mouse intestinal GlcNac 6-O-sulfotransferase both produce keratan sulfate.". J. Biol. Chem. 276 (19): 16271–8. doi:10.1074/jbc.M009995200. PMID 11278593.
- Bartes A, Bhakta S, Hemmerich S (2001). "Sulfation of endothelial mucin by corneal keratan N-acetylglucosamine 6-O-sulfotransferase (GST-4beta).". Biochem. Biophys. Res. Commun. 282 (4): 928–33. doi:10.1006/bbrc.2001.4668. PMID 11352640.
- El-Ashry MF, Abd El-Aziz MM, Wilkins S, et al. (2002). "Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophy.". Invest. Ophthalmol. Vis. Sci. 43 (2): 377–82. PMID 11818380.
- Akama TO, Misra AK, Hindsgaul O, Fukuda MN (2003). "Enzymatic synthesis in vitro of the disulfated disaccharide unit of corneal keratan sulfate.". J. Biol. Chem. 277 (45): 42505–13. doi:10.1074/jbc.M207412200. PMID 12218059.
- 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. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Niel F, Ellies P, Dighiero P, et al. (2003). "Truncating mutations in the carbohydrate sulfotransferase 6 gene (CHST6) result in macular corneal dystrophy.". Invest. Ophthalmol. Vis. Sci. 44 (7): 2949–53. doi:10.1167/iovs.02-0740. PMID 12824236.
- Iida-Hasegawa N, Furuhata A, Hayatsu H, et al. (2003). "Mutations in the CHST6 gene in patients with macular corneal dystrophy: immunohistochemical evidence of heterogeneity.". Invest. Ophthalmol. Vis. Sci. 44 (8): 3272–7. doi:10.1167/iovs.02-0910. PMID 12882769.
- Ha NT, Chau HM, Cung le X, et al. (2003). "Mutation analysis of the carbohydrate sulfotransferase gene in Vietnamese with macular corneal dystrophy.". Invest. Ophthalmol. Vis. Sci. 44 (8): 3310–6. doi:10.1167/iovs.03-0031. PMID 12882775.
- Ha NT, Chau HM, Cung le X, et al. (2003). "Identification of novel mutations of the CHST6 gene in Vietnamese families affected with macular corneal dystrophy in two generations.". Cornea. 22 (6): 508–11. doi:10.1097/00003226-200308000-00004. PMID 12883341.
- Warren JF, Aldave AJ, Srinivasan M, et al. (2003). "Novel mutations in the CHST6 gene associated with macular corneal dystrophy in southern India.". Arch. Ophthalmol. 121 (11): 1608–12. doi:10.1001/archopht.121.11.1608. PMID 14609920.
- Sultana A, Sridhar MS, Jagannathan A, et al. (2004). "Novel mutations of the carbohydrate sulfotransferase-6 (CHST6) gene causing macular corneal dystrophy in India.". Mol. Vis. 9: 730–4. PMID 14735064.
- Abbruzzese C, Kuhn U, Molina F, et al. (2004). "Novel mutations in the CHST6 gene causing macular corneal dystrophy.". Clin. Genet. 65 (2): 120–5. doi:10.1111/j.0009-9163.2004.00191.x. PMID 14984470.
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