Defective CHST6 does not transfer SO4(2-) to GlcNAc residues on keratan-PG

Stable Identifier
Reaction [transition]
Homo sapiens
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Carbohydrate sulfotransferase 6 (CHST6) catalyzes the transfer of sulfate to position 6 of non-reducing ends of N-acetylglucosamine (GlcNAc) residues within keratan(4)-PG (this represents a keratan chain before sulfation has occured). Keratan sulfate (KS) plays a central role in maintaining corneal transparency. Defective CHST6 results in low- or non-sulfated KS deposited within the intracellular space and the extracellular corneal stroma leading to macular corneal dystrophy, type 1 (MCDC1; MIM:217800). MCDC1 is an early-onset, ocular disease characterized by bilateral, progressive corneal opacification, and reduced corneal sensitivity. Mutations in CHST6 leading to MCDC1 are K174R, D203E, E274K, R211W and L200R as compound heterozygote with C102G, Y110C and L276P (Akama et al. 2000, Aldave et al. 2004).
Literature References
PubMed ID Title Journal Year
15013869 Novel mutations in the carbohydrate sulfotransferase gene (CHST6) in American patients with macular corneal dystrophy

Cohen, EJ, Warren, JF, Yellore, VS, Margolis, TP, Thonar, EJ, Aldave, AJ, Laibson, PR, Yoon, MK, Udar, N, Small, K, Rapuano, CJ

Am. J. Ophthalmol. 2004
11017086 Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene

Maeda, N, Kawasaki, S, Watanabe, H, Akama, TO, Ozaki, K, Fujiwara, T, Tanigami, A, Inoue, Y, Dota, A, Shimomura, Y, Yamamoto, S, Nakayama, J, Kinoshita, S, Thonar, EJ, Nakamura, T, Fukuda, MN, Nishida, K

Nat. Genet. 2000
Catalyst Activity

N-acetylglucosamine 6-O-sulfotransferase activity of CHST6 mutants [Golgi membrane]

Normal reaction
Functional status

Loss of function of CHST6 mutants [Golgi membrane]

Name Identifier Synonyms
macular corneal dystrophy DOID:2565 Macular Corneal Dystrophy, Macular corneal dystrophy (disorder)
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