ChGn
{{Short description|Protein-coding gene in the species Homo sapiens}}
{{Infobox_gene}}
Chondroitin sulfate N-acetylgalactosaminyltransferase 1 is an enzyme that in humans is encoded by the CSGALNACT1 gene.{{cite journal | vauthors = Sakai K, Kimata K, Sato T, Gotoh M, Narimatsu H, Shinomiya K, Watanabe H | title = Chondroitin sulfate N-acetylgalactosaminyltransferase-1 plays a critical role in chondroitin sulfate synthesis in cartilage | journal = The Journal of Biological Chemistry | volume = 282 | issue = 6 | pages = 4152–61 | date = Feb 2007 | pmid = 17145758 | doi = 10.1074/jbc.M606870200 | doi-access = free }}{{cite journal | vauthors = Sato T, Gotoh M, Kiyohara K, Akashima T, Iwasaki H, Kameyama A, Mochizuki H, Yada T, Inaba N, Togayachi A, Kudo T, Asada M, Watanabe H, Imamura T, Kimata K, Narimatsu H | title = Differential roles of two N-acetylgalactosaminyltransferases, CSGalNAcT-1, and a novel enzyme, CSGalNAcT-2. Initiation and elongation in synthesis of chondroitin sulfate | journal = The Journal of Biological Chemistry | volume = 278 | issue = 5 | pages = 3063–71 | date = Jan 2003 | pmid = 12446672 | doi = 10.1074/jbc.M208886200 | doi-access = free }}{{cite web | title = Entrez Gene: ChGn chondroitin beta1,4 N-acetylgalactosaminyltransferase| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=55790}}
Clinical
A form of mild skeletal dysplasia has been associated with mutations in this gene.{{cite journal | vauthors = Mizumoto S, Janecke AR, Sadeghpour A, Povysil G, McDonald MT, Unger S, Greber-Platzer S, Deak KL, Katsanis N, Superti-Furga A, Sugahara K, Davis EE, Yamada S, Vodopiutz J | display-authors = 6 | collaboration = Task Force for Neonatal Genomics | title = CSGALNACT1-congenital disorder of glycosylation: a mild skeletal dysplasia with advanced bone age | journal = Human Mutation | volume = 41| issue = 3| pages = 655–667| date = November 2019 | pmid = 31705726 | doi = 10.1002/humu.23952 | pmc = 7027858 | doi-access = free }}
References
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Further reading
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- {{cite journal | vauthors = Gotoh M, Sato T, Akashima T, Iwasaki H, Kameyama A, Mochizuki H, Yada T, Inaba N, Zhang Y, Kikuchi N, Kwon YD, Togayachi A, Kudo T, Nishihara S, Watanabe H, Kimata K, Narimatsu H | title = Enzymatic synthesis of chondroitin with a novel chondroitin sulfate N-acetylgalactosaminyltransferase that transfers N-acetylgalactosamine to glucuronic acid in initiation and elongation of chondroitin sulfate synthesis | journal = The Journal of Biological Chemistry | volume = 277 | issue = 41 | pages = 38189–96 | date = Oct 2002 | pmid = 12163485 | doi = 10.1074/jbc.M203619200 | doi-access = free }}
- {{cite journal | vauthors = Uyama T, Kitagawa H, Tamura Ji J, Sugahara K | title = Molecular cloning and expression of human chondroitin N-acetylgalactosaminyltransferase: the key enzyme for chain initiation and elongation of chondroitin/dermatan sulfate on the protein linkage region tetrasaccharide shared by heparin/heparan sulfate | journal = The Journal of Biological Chemistry | volume = 277 | issue = 11 | pages = 8841–6 | date = Mar 2002 | pmid = 11788602 | doi = 10.1074/jbc.M111434200 | doi-access = free }}
- {{cite journal | vauthors = Kitagawa H, Uyama T, Sugahara K | title = Molecular cloning and expression of a human chondroitin synthase | journal = The Journal of Biological Chemistry | volume = 276 | issue = 42 | pages = 38721–6 | date = Oct 2001 | pmid = 11514575 | doi = 10.1074/jbc.M106871200 | doi-access = free }}
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