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Defective CHST6 causes MCDC1

Summary

Organism

Homo sapiens (human)

Reactome

R-HSA-3656225

PubChem

R-HSA-3656225

Description

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).

Click on a node on the pathway to see its details. Glycoproteins are marked with a glycoprotein icon in their name.

SPV: a JavaScript Signaling Pathway Visualizer, Bioinformatics, 2018

Displaying **all 8** entries
UniProt ID	Protein Name	Gene Symbol	Pathway Viewer
O60938	Keratocan	KERA SLRR2B	view
P16112	Aggrecan core protein	ACAN AGC1 CSPG1 MSK16	view
P20774	Mimecan	OGN OIF SLRR3A	view
P51884	Lumican	LDC LUM SLRR2D	view
P51888	Prolargin	PRELP SLRR2A	view
Q06828	Fibromodulin	FM FMOD SLRR2E	view
Q99983	Osteomodulin	OMD SLRR2C UNQ190/PRO216	view
Q9GZX3	Carbohydrate sulfotransferase 6	CHST6	view

Displaying 1 entry
GlyCosmos Lectin	UniProt ID	Lectin Name	Pathway Viewer
GL_000051	P16112	Aggrecan core protein	view

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