CHST6

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Carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6
Identifiers
Symbols CHST6 ; MCDC1
External IDs OMIM605294 MGI1931825 HomoloGene56927 GeneCards: CHST6 Gene
Orthologs
Species Human Mouse
Entrez 4166 56773
Ensembl ENSG00000183196 ENSMUSG00000031952
UniProt Q9GZX3 Q9QUP4
RefSeq (mRNA) NM_021615 NM_019950
RefSeq (protein) NP_067628 NP_064334
Location (UCSC) Chr 16:
75.51 – 75.53 Mb
Chr 8:
111.89 – 111.91 Mb
PubMed search [1] [2]

Carbohydrate sulfotransferase 6 is an enzyme that in humans is encoded by the CHST6 gene.[1][2][3]

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

References[edit]

  1. ^ 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. 
  2. ^ 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. 
  3. ^ "Entrez Gene: CHST6 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6". 

Further reading[edit]