Protein-coding gene in the species Homo sapiens
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]
Clinical significance [ edit ] 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] pseudoxanthoma elasticum .
^ a b c GRCh38: Ensembl release 89: ENSG00000015532 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000020868 – Ensembl , May 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ Götting C, Kuhn J, Zahn R, Brinkmann T, Kleesiek K (Dec 2000). "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. doi :10.1006/jmbi.2000.4261 . PMID 11099377 . ^ a b c "Entrez Gene: XYLT2 xylosyltransferase II" .^ Taylan F, Costantini A, Coles N, Pekkinen M, Héon E, Şıklar Z, Berberoğlu M, Kämpe A, Kıykım E, Grigelioniene G, Tüysüz B, Mäkitie O (Mar 2016). "Spondyloocular Syndrome - Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum" . Journal of Bone and Mineral Research . 31 (8): 1577–1585. doi :10.1002/jbmr.2834 PMID 26987875 . Götting C, Kuhn J, Brinkmann T, Kleesiek K (Apr 1998). "Xylosylation of alternatively spliced isoforms of Alzheimer APP by xylosyltransferase". Journal of Protein Chemistry . 17 (3): 295–302. doi :10.1023/A:1022549121672 . PMID 9588955 . S2CID 39212266 . Götting C, Sollberg S, Kuhn J, Weilke C, Huerkamp C, Brinkmann T, Krieg T, Kleesiek K (Jun 1999). "Serum xylosyltransferase: a new biochemical marker of the sclerotic process in systemic sclerosis" . The Journal of Investigative Dermatology . 112 (6): 919–24. doi :10.1046/j.1523-1747.1999.00590.x PMID 10383739 . Kuhn J, Götting C, Schnölzer M, Kempf T, Brinkmann T, Kleesiek K (Feb 2001). "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. doi :10.1074/jbc.M005111200 PMID 11087729 . Götting C, Kuhn J, Brinkmann T, Kleesiek K (Mar 2002). "Xylosyltransferase activity in seminal plasma of infertile men". Clinica Chimica Acta; International Journal of Clinical Chemistry . 317 (1–2): 199–202. doi :10.1016/S0009-8981(01)00793-8 . PMID 11814476 . Schön S, Prante C, Müller S, Schöttler M, Tarnow L, Kuhn J, Kleesiek K, Götting C (Oct 2005). "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. doi :10.1111/j.1523-1755.2005.00561.x PMID 16164625 . Schön S, Prante C, Bahr C, Kuhn J, Kleesiek K, Götting C (May 2006). "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. doi :10.1074/jbc.M510690200 PMID 16569644 . Voglmeir J, Voglauer R, Wilson IB (Mar 2007). "XT-II, the second isoform of human peptide-O-xylosyltransferase, displays enzymatic activity" . The Journal of Biological Chemistry . 282 (9): 5984–90. doi :10.1074/jbc.M608087200 PMC 2850172 PMID 17194707 .
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