Gene: CHST6

Alternate names for this Gene: C-GlcNAc6ST|GST4-beta|MCDC1|glcNAc6ST-5|gn6st-5|hCGn6ST

Gene Summary: The protein encoded by this gene is an enzyme that catalyzes the transfer of a sulfate group to the GlcNAc residues of keratan. Keratan sulfate helps maintain corneal transparency. Defects in this gene are a cause of macular corneal dystrophy (MCD).

Gene is located in Chromosome: 16

Location in Chromosome : 16q23.1

Description of this Gene: carbohydrate sulfotransferase 6

Type of Gene: protein-coding

rs977987 in CHST6 gene and Dupuytren Contracture PMID 28886342 2017 A Genome-wide Association Study of Dupuytren Disease Reveals 17 Additional Variants Implicated in Fibrosis.

rs121917822 in CHST6 gene and Macular dystrophy, corneal type 1 PMID 15013869 2004 Novel mutations in the carbohydrate sulfotransferase gene (CHST6) in American patients with macular corneal dystrophy.

PMID 19365571 2009 Macular corneal dystrophy in a Chinese family related with novel mutations of CHST6.

PMID 15652851 2005 Novel CHST6 nonsense and missense mutations responsible for macular corneal dystrophy.

PMID 21242781 2011 Novel CHST6 gene mutations in 2 unrelated cases of macular corneal dystrophy.

PMID 14735064 2003 Novel mutations of the carbohydrate sulfotransferase-6 (CHST6) gene causing macular corneal dystrophy in India.

PMID 26604660 2015 Molecular analysis of the CHST6 gene in Korean patients with macular corneal dystrophy: Identification of three novel mutations.

PMID 14609920 2003 Novel mutations in the CHST6 gene associated with macular corneal dystrophy in southern India.

PMID 24311932 2013 A case of Korean patient with macular corneal dystrophy associated with novel mutation in the CHST6 gene.

PMID 11818380 2002 Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophy.

PMID 12218059 2002 Enzymatic synthesis in vitro of the disulfated disaccharide unit of corneal keratan sulfate.

PMID 14984470 2004 Novel mutations in the CHST6 gene causing macular corneal dystrophy.

PMID 11139648 2000 Mutations in corneal carbohydrate sulfotransferase 6 gene (CHST6) cause macular corneal dystrophy in Iceland.

PMID 12883341 2003 Identification of novel mutations of the CHST6 gene in Vietnamese families affected with macular corneal dystrophy in two generations.

PMID 12882775 2003 Mutation analysis of the carbohydrate sulfotransferase gene in Vietnamese with macular corneal dystrophy.

PMID 11017086 2000 Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene.

PMID 12882769 2003 Mutations in the CHST6 gene in patients with macular corneal dystrophy: immunohistochemical evidence of heterogeneity.

PMID 12824236 2003 Truncating mutations in the carbohydrate sulfotransferase 6 gene (CHST6) result in macular corneal dystrophy.

PMID 12882769 2003 Two mutations (homozygoous R211W and compound heterozygous R211W/A217T) should be subclassified immunohistochemically into new phenotypes of MCD.

PMID 11278593 2001 Human corneal GlcNac 6-O-sulfotransferase and mouse intestinal GlcNac 6-O-sulfotransferase both produce keratan sulfate.

PMID 24926691 2014 Phenotype and genotype analysis in patients with macular corneal dystrophy.

PMID 25081284 2014 Macular corneal dystrophy and associated corneal thinning.

PMID 17962390 2008 Allelic association of the c.[484C>G; 599T>G] in six probands out of eight, as well as occurrence of this particular allele in a heterozygous state in one healthy control individual, supports a common founder effect for MCD in the Czech Republic.

PMID 18500531 2008 Macular corneal dystrophy: mutational spectrum in German patients, novel mutations and therapeutic options.

PMID 16568029 2006 CHST6 mutations in North American subjects with macular corneal dystrophy: a comprehensive molecular genetic review.

PMID 14609920 2003 Analysis of the CHST6 coding region in patients with type I MCD identified 11 homozygous missense mutations (Leu22Arg, His42Tyr, Arg50Cys, Arg50Leu, Ser53Leu, Arg97Pro, Cys102Tyr, Arg127Cys, Arg205Gln, His249Pro, and Glu274Lys), 2 compound heterozygous missense mutations (Arg93His and Ala206Thr), 5 homozygous deletion mutations (delCG707-708, delC890, delA1237, del1748-1770, and delORF), and 2 homozygous replacement mutations (ACCTAC 1273 GGT, and GCG 1304 AT).

PMID 20539220 2010 Mutation analysis of CHST6 gene in Chinese patients with macular corneal dystrophy.