XYLT2 explained

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.^[3]

Mutations in this gene have been shown to be the cause of the spondylo-ocular syndrome.^[4] It has also been implicated as cofactor in pseudoxanthoma elasticum.

Further reading

• Götting C, Kuhn J, Brinkmann T, Kleesiek K . Xylosylation of alternatively spliced isoforms of Alzheimer APP by xylosyltransferase . Journal of Protein Chemistry . 17 . 3 . 295–302 . Apr 1998 . 9588955 . 10.1023/A:1022549121672 . 39212266 .
• Götting C, Sollberg S, Kuhn J, Weilke C, Huerkamp C, Brinkmann T, Krieg T, Kleesiek K . Serum xylosyltransferase: a new biochemical marker of the sclerotic process in systemic sclerosis . The Journal of Investigative Dermatology . 112 . 6 . 919–24 . Jun 1999 . 10383739 . 10.1046/j.1523-1747.1999.00590.x . free .
• Kuhn J, Götting C, Schnölzer M, Kempf T, Brinkmann T, Kleesiek K . First isolation of human UDP-D-xylose: proteoglycan core protein beta-D-xylosyltransferase secreted from cultured JAR choriocarcinoma cells . The Journal of Biological Chemistry . 276 . 7 . 4940–7 . Feb 2001 . 11087729 . 10.1074/jbc.M005111200 . free .
• Götting C, Kuhn J, Brinkmann T, Kleesiek K . Xylosyltransferase activity in seminal plasma of infertile men . Clinica Chimica Acta; International Journal of Clinical Chemistry . 317 . 1–2 . 199–202 . Mar 2002 . 11814476 . 10.1016/S0009-8981(01)00793-8 .
• Schön S, Prante C, Müller S, Schöttler M, Tarnow L, Kuhn J, Kleesiek K, Götting C . Impact of polymorphisms in the genes encoding xylosyltransferase I and a homologue in type 1 diabetic patients with and without nephropathy . Kidney International . 68 . 4 . 1483–90 . Oct 2005 . 16164625 . 10.1111/j.1523-1755.2005.00561.x . free .
• Schön S, Prante C, Bahr C, Kuhn J, Kleesiek K, Götting C . Cloning and recombinant expression of active full-length xylosyltransferase I (XT-I) and characterization of subcellular localization of XT-I and XT-II . The Journal of Biological Chemistry . 281 . 20 . 14224–31 . May 2006 . 16569644 . 10.1074/jbc.M510690200 . free .
• Voglmeir J, Voglauer R, Wilson IB . XT-II, the second isoform of human peptide-O-xylosyltransferase, displays enzymatic activity . The Journal of Biological Chemistry . 282 . 9 . 5984–90 . Mar 2007 . 17194707 . 2850172 . 10.1074/jbc.M608087200 . free .

Notes and References

1. Götting C, Kuhn J, Zahn R, Brinkmann T, Kleesiek K . Molecular cloning and expression of human UDP-d-Xylose:proteoglycan core protein beta-d-xylosyltransferase and its first isoform XT-II . Journal of Molecular Biology . 304 . 4 . 517–28 . Dec 2000 . 11099377 . 10.1006/jmbi.2000.4261 .
2. Web site: Entrez Gene: XYLT2 xylosyltransferase II.
3. Web site: Entrez Gene: XYLT2 xylosyltransferase II.
4. Taylan F, Costantini A, Coles N, Pekkinen M, Héon E, Şıklar Z, Berberoğlu M, Kämpe A, Kıykım E, Grigelioniene G, Tüysüz B, Mäkitie O . Spondyloocular Syndrome - Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum . Journal of Bone and Mineral Research . 31 . 8 . 1577–1585 . Mar 2016 . 26987875 . 10.1002/jbmr.2834 . free .