Defective CHST6 causes MCDC1

Stable Identifier
R-HSA-3656225
Type
Pathway
Species
Homo sapiens
Synonyms
Defective CHST6 causes macular corneal dystrophy, type 1
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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 on keratan sulfate (KS). KS plays a central role in maintaining corneal transparency. Defective CHST6 (Nakazawa et al. 1984) results in unsulfated keratan deposited within the intracellular space and the extracellular corneal stroma leading to macular dystrophy, corneal type I (MCDC1; MIM:217800). MCDC1 is an early-onset, ocular disease characterized by bilateral, progressive corneal opacification, and reduced corneal sensitivity (Jones & Zimmerman 1961). MCD can be subdivided into 2 types on the basis of immunohistochemical studies and serum analysis for keratan sulfate; MCD type I, in which there is a virtual absence of sulfated KS-specific antibody response in the serum and cornea and MCD type II, in which the normal KS-specific antibody response is present in cornea and serum (Yang et al. 1988).

Literature References
PubMed ID Title Journal Year
6238957 Defective processing of keratan sulfate in macular corneal dystrophy

Nakazawa, K, Hassell, JR, Hascall, VC, Lohmander, LS, Newsome, DA, Krachmer, J

J. Biol. Chem. 1984
13790593 Histopathologic differentiation of granular, macular and lattice dystrophies of the cornea

JONES, ST, ZIMMERMAN, LE

Am. J. Ophthalmol. 1961
3293458 Immunohistochemical evidence of heterogeneity in macular corneal dystrophy

Yang, CJ, SundarRaj, N, Thonar, EJ, Klintworth, GK

Am. J. Ophthalmol. 1988
Participants
Participant Of
Disease
Name Identifier Synonyms
macular corneal dystrophy 2565 Macular Corneal Dystrophy, Macular corneal dystrophy (disorder)
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