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CHST6 information


CHST6
Identifiers
AliasesCHST6, MCDC1, carbohydrate sulfotransferase 6, GST4-beta, gn6st-5, hCGn6ST, glcNAc6ST-5, C-GlcNAc6ST
External IDsOMIM: 605294; MGI: 1931825; HomoloGene: 56927; GeneCards: CHST6; OMA:CHST6 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_021615

NM_019950

RefSeq (protein)

NP_067628

NP_064334

Location (UCSC)Chr 16: 75.47 – 75.5 MbChr 8: 112.62 – 112.64 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Carbohydrate sulfotransferase 6 is an enzyme that in humans is encoded by the CHST6 gene.[5][6][7]

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

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000183196 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000031952 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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.
  6. ^ 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. S2CID 25547752.
  7. ^ "Entrez Gene: CHST6 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6".

and 6 Related for: CHST6 information

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CHST6

Last Update:

Carbohydrate sulfotransferase 6 is an enzyme that in humans is encoded by the CHST6 gene. It codes for an enzyme necessary for the production of keratan sulfate...

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Corneal dystrophy

Last Update:

of vision. Different corneal dystrophies are caused by mutations in the CHST6, KRT3, KRT12, PIP5K3, SLC4A11, TACSTD2, TGFBI, and UBIAD1 genes. Mutations...

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Sulfotransferase

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sulfotransferases: carbohydrate sulfotransferase: CHST1, CHST2, CHST3, CHST4, CHST5, CHST6, CHST7, CHST8, CHST9, CHST10, CHST11, CHST12, CHST13, CHST14...

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Carbohydrate sulfotransferase

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target, the CD4 receptor. Mutation in Carbohydrate sulfotransferases 6 (CHST6) is associated with Macular Corneal Dystrophy (MCD) Inheritance: Autosomal...

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Macular corneal dystrophy

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disorder caused by mutations in the carbohydrate sulfotransferase gene (CHST6), resulting in abnormal proteoglycan synthesis. The accumulation of abnormal...

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List of OMIM disorder codes

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dominant, TUBB1-related; 613112; TUBB1 Macular corneal dystrophy; 217800; CHST6 Macular degeneration, age-related, 11; 611953; CST3 Macular degeneration...

Word Count : 18877

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