XYLT2
Template:Short description Template:Infobox gene Xylosyltransferase 2 is an enzyme that in humans is encoded by the XYLT2 gene.[1][2]
Function
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.[2]
Clinical significance
The enzyme activity, which is increased in scleroderma patients, is a diagnostic marker for the determination of sclerotic activity in systemic sclerosis.[2]
Mutations in this gene have been shown to be the cause of the spondylo-ocular syndrome.[3] It has also been implicated as cofactor in pseudoxanthoma elasticum.
References
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Further reading
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