XYLT2
Xylosyltransferase 2 is an enzyme that in humans is encoded by the XYLT2 gene.[5][6]
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.[6]
Clinical significance
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.
References
- GRCh38: Ensembl release 89: ENSG00000015532 - Ensembl, May 2017
- 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.
- "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.
Further reading
- 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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