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

Stable Identifier
R-HSA-3656269
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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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
11017086 Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene

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

Nat. Genet. 2000
15013869 Novel mutations in the carbohydrate sulfotransferase gene (CHST6) in American patients with macular corneal dystrophy

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

Am. J. Ophthalmol. 2004
Participants
Participant Of
Catalyst Activity
Catalyst Activity
Title
N-acetylglucosamine 6-O-sulfotransferase activity of CHST6 mutants [Golgi membrane]
Physical Entity
Activity
Normal reaction
Disease
Name Identifier Synonyms
macular corneal dystrophy 2565 Macular Corneal Dystrophy, Macular corneal dystrophy (disorder)
Authored
Reviewed
Created