CHST6 (carbohydrate sulfotransferase 6)

2014-11-01  

Identity

HGNC
LOCATION
16q23.1
LOCUSID
ALIAS
C-GlcNAc6ST,GST4-beta,MCDC1,glcNAc6ST-5,gn6st-5,hCGn6ST
FUSION GENES

Other Information

Locus ID:

NCBI: 4166
MIM: 605294
HGNC: 6938
Ensembl: ENSG00000183196

Variants:

dbSNP: 4166
ClinVar: 4166
TCGA: ENSG00000183196
COSMIC: CHST6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000183196ENST00000332272Q9GZX3
ENSG00000183196ENST00000390664Q9GZX3
ENSG00000183196ENST00000649341Q9GZX3
ENSG00000183196ENST00000649824Q9GZX3

Expression (GTEx)

0
5
10
15

Pathways

PathwaySourceExternal ID
Glycosaminoglycan biosynthesis - keratan sulfateKEGGko00533
Glycosaminoglycan biosynthesis - keratan sulfateKEGGhsa00533
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Glycosaminoglycan metabolismREACTOMER-HSA-1630316
Keratan sulfate/keratin metabolismREACTOMER-HSA-1638074
Keratan sulfate biosynthesisREACTOMER-HSA-2022854

References

Pubmed IDYearTitleCitations
150138692004Novel mutations in the carbohydrate sulfotransferase gene (CHST6) in American patients with macular corneal dystrophy.12
165680292006CHST6 mutations in North American subjects with macular corneal dystrophy: a comprehensive molecular genetic review.12
118183802002Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophy.11
128827692003Mutations in the CHST6 gene in patients with macular corneal dystrophy: immunohistochemical evidence of heterogeneity.9
146099202003Novel mutations in the CHST6 gene associated with macular corneal dystrophy in southern India.9
198442552010Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects.9
178463542007In vivo laser confocal microscopic findings of corneal stromal dystrophies.8
128242362003Truncating mutations in the carbohydrate sulfotransferase 6 gene (CHST6) result in macular corneal dystrophy.7
128827752003Mutation analysis of the carbohydrate sulfotransferase gene in Vietnamese with macular corneal dystrophy.7
147350642003Novel mutations of the carbohydrate sulfotransferase-6 (CHST6) gene causing macular corneal dystrophy in India.7

Citation

Dessen P

CHST6 (carbohydrate sulfotransferase 6)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61824/chst6