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
Golgi membrane, Golgi lumen
ReviewStatus
5/5
Locations in the PathwayBrowser
Expand all
General
SVG | 
PNG
Low
Medium
High
 | PPTX  | SBGN
Defective CHST6 does not transfer SO4(2-) to GlcNAc residues on keratan-PG
Click the image above or here to open this reaction in the Pathway Browser
The layout of this reaction may differ from that in the pathway view due to the constraints in pathway layout
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

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
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
Participants
Input
Participates
as an event of
Catalyst Activity

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

Physical Entity
CHST6 mutants [Golgi membrane] (Homo sapiens)
Activity
N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)
Normal reaction
CHST2,3,5,6 transfer sulfate to GlcNAc on keratan chain (Homo sapiens)
Functional status

Loss of function of CHST6 mutants [Golgi membrane]

Normal Entity
Disease Entity
Status
Disease
Name Identifier Synonyms
macular corneal dystrophy DOID:2565 Macular Corneal Dystrophy, Macular corneal dystrophy (disorder)
Cross References
Mondo
Authored
Jassal, B  (2013-05-31)
Reviewed
Spillmann, D  (2014-07-09)
Created
Jassal, B  (2013-05-31)
Cite Us!