CHST6

CHST6

A gene on chromosome 16q22 that encodes a sulfotransferase which catalyses the transfer of sulfate to keratan. Keratan sulfate plays a central role in maintaining corneal transparency.

Molecular pathology
Defects in CHST6 cause macular corneal dystrophy.
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References in periodicals archive ?
(1) Mutation in carbohydrate (N-acetylglucosamine6-O) sulfotransferase 6 (CHST6) gene is usually responsible for MCD.
MCD is inherited as recessive autosomal and it appears to be caused by abnormal structures of creatinine sulfate, which is triggered by a mutation in CHST6 gene.
Considering different mutations in CHST6 gene on the 16q23 region to create MCD as well as the role of different mutations (mutation in more than 40 genes) to generate RP disease, it is important to investigate both diseases genetically by molecular methods to discover the reason behind the association of these two diseases.
Novel mutations in the carbohydrate sulfotransferase gene (CHST6) in American patients with macular corneal dystrophy.
The CHST6 gene encodes human GlcNAc-6-O-sulfotransferase (EC 2.8.2.-) that transfers sulfate to the 6-O position of GlcNAc and Gal residues in the poly-N-acetyllactosamine extensions in keratan sulfate.