CHST6 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Aliases | CHST6 , MCDC1, carbohydrate sulfotransferase 6, GST4-beta, gn6st-5, hCGn6ST, glcNAc6ST-5, C-GlcNAc6ST | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 605294 MGI: 1931825 HomoloGene: 56927 GeneCards: CHST6 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Carbohydrate sulfotransferase 6 is an enzyme that in humans is encoded by the CHST6 gene. [5] [6] [7]
It codes for an enzyme necessary for the production of keratan sulfate. Mutations in the gene lead to macular corneal dystrophy.
Keratin 12 is a protein that in humans is encoded by the KRT12 gene.
Keratan sulfate (KS), also called keratosulfate, is any of several sulfated glycosaminoglycans that have been found especially in the cornea, cartilage, and bone. It is also synthesized in the central nervous system where it participates both in development and in the glial scar formation following an injury. Keratan sulfates are large, highly hydrated molecules which in joints can act as a cushion to absorb mechanical shock.
11-cis retinol dehydrogenase is an enzyme that in humans is encoded by the RDH5 gene.
Guanylyl cyclase-activating protein 1 is an enzyme that in humans is encoded by the GUCA1A gene.
Keratocan (KTN) also known as keratan sulfate proteoglycan keratocan, is a protein that in humans is encoded by the KERA gene.
Collagen alpha-2(VIII) chain is a protein that in humans is encoded by the COL8A2 gene. Mutations of the gene are linked to posterior polymorphous dystrophy type 2.
Cyclic nucleotide gated channel beta 3, also known as CNGB3, is a human gene encoding an ion channel protein.
Collagen alpha-1(VIII) chain is a protein that in humans is encoded by the COL8A1 gene.
Carbohydrate sulfotransferase 2 is an enzyme that in humans is encoded by the CHST2 gene.
Carbohydrate sulfotransferase 4 is an enzyme that in humans is encoded by the CHST4 gene.
Visual system homeobox 1 is a protein that in humans is encoded by the VSX1 gene.
Carbohydrate sulfotransferase 1 is an enzyme that in humans is encoded by the CHST1 gene.
Cytochrome P450 4V2 is a protein that in humans is encoded by the CYP4V2 gene.
Carbohydrate sulfotransferase 5 is an enzyme that in humans is encoded by the CHST5 gene.
Carbohydrate sulfotransferase 11 is an enzyme that in humans is encoded by the CHST11 gene.
Carbohydrate sulfotransferase 12 is an enzyme that in humans is encoded by the CHST12 gene.
Carbohydrate sulfotransferase 7 is an enzyme that in humans is encoded by the CHST7 gene.
Carbohydrate sulfotransferase 10 is an enzyme that in humans is encoded by the CHST10 gene.
Macular corneal dystrophy, also known as Fehr corneal dystrophy, is a rare pathological condition affecting the stroma of cornea first described by Arthur Groenouw in 1890. Signs are usually noticed in the first decade of life and progress afterwards, with opacities developing in the cornea and attacks of pain. This gradual opacification leads to visual impairment often requiring keratoplasty in the later decades of life.
Carbohydrate sulfotransferases are sulfotransferase enzymes that transfer sulfate to carbohydrate groups in glycoproteins and glycolipids. Carbohydrates are used by cells for a wide range of functions from structural purposes to extracellular communication. Carbohydrates are suitable for such a wide variety of functions due to the diversity in structure generated from monosaccharide composition, glycosidic linkage positions, chain branching, and covalent modification. Possible covalent modifications include acetylation, methylation, phosphorylation, and sulfation. Sulfation, performed by carbohydrate sulfotransferases, generates carbohydrate sulfate esters. These sulfate esters are only located extracellularly, whether through excretion into the extracellular matrix (ECM) or by presentation on the cell surface. As extracellular compounds, sulfated carbohydrates are mediators of intercellular communication, cellular adhesion, and ECM maintenance.