Search results for CHST6

Showing 10 results out of 12

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Protein (7 results from a total of 9)

Identifier: R-HSA-1971537
Species: Homo sapiens
Compartment: Golgi membrane
Primary external reference: UniProt: CHST6: Q9GZX3
Identifier: R-HSA-3656470
Species: Homo sapiens
Compartment: Golgi membrane
Primary external reference: UniProt: CHST6: Q9GZX3
Identifier: R-HSA-3656454
Species: Homo sapiens
Compartment: Golgi membrane
Primary external reference: UniProt: Q9GZX3
Identifier: R-HSA-3656437
Species: Homo sapiens
Compartment: Golgi membrane
Primary external reference: UniProt: Q9GZX3
Identifier: R-HSA-3656420
Species: Homo sapiens
Compartment: Golgi membrane
Primary external reference: UniProt: Q9GZX3
Identifier: R-HSA-3656419
Species: Homo sapiens
Compartment: Golgi membrane
Primary external reference: UniProt: Q9GZX3
Identifier: R-HSA-3656480
Species: Homo sapiens
Compartment: Golgi membrane
Primary external reference: UniProt: Q9GZX3

Set (1 results from a total of 1)

Identifier: R-HSA-3656442
Species: Homo sapiens
Compartment: Golgi membrane

Pathway (1 results from a total of 1)

Identifier: R-HSA-3656225
Species: Homo sapiens
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).

Reaction (1 results from a total of 1)

Identifier: R-HSA-3656269
Species: Homo sapiens
Compartment: Golgi membrane, Golgi lumen
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).
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