Xylosyltransferase 2 is an enzyme that in humans is encoded by the XYLT2 gene.[5][6]
The protein encoded by this gene is an isoform of xylosyltransferase, which belongs to a family of glycosyltransferases. This enzyme transfers xylose from UDP-xylose to specific serine residues of the core protein and initiates the biosynthesis of glycosaminoglycan chains in proteoglycans including chondroitin sulfate, heparan sulfate, heparin and dermatan sulfate.[6]
The enzyme activity, which is increased in scleroderma patients, is a diagnostic marker for the determination of sclerotic activity in systemic sclerosis.[6]
Mutations in this gene have been shown to be the cause of the spondylo-ocular syndrome.[7] It has also been implicated as cofactor in pseudoxanthoma elasticum.
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2.4.1: Hexosyl- transferases |
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2.4.2: Pentosyl- transferases |
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2.4.99: Sialyl transferases |
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