Biology:XYLT2
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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
- ↑ "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. doi:10.1006/jmbi.2000.4261. PMID 11099377.
- ↑ 2.0 2.1 2.2 "Entrez Gene: XYLT2 xylosyltransferase II". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=64132.
- ↑ "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. doi:10.1002/jbmr.2834. PMID 26987875.
Further reading
- "Xylosylation of alternatively spliced isoforms of Alzheimer APP by xylosyltransferase". Journal of Protein Chemistry 17 (3): 295–302. Apr 1998. doi:10.1023/A:1022549121672. PMID 9588955.
- "Serum xylosyltransferase: a new biochemical marker of the sclerotic process in systemic sclerosis". The Journal of Investigative Dermatology 112 (6): 919–24. Jun 1999. doi:10.1046/j.1523-1747.1999.00590.x. PMID 10383739.
- "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. doi:10.1074/jbc.M005111200. PMID 11087729.
- "Xylosyltransferase activity in seminal plasma of infertile men". Clinica Chimica Acta; International Journal of Clinical Chemistry 317 (1–2): 199–202. Mar 2002. doi:10.1016/S0009-8981(01)00793-8. PMID 11814476.
- "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. doi:10.1111/j.1523-1755.2005.00561.x. PMID 16164625.
- "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. doi:10.1074/jbc.M510690200. PMID 16569644.
- "XT-II, the second isoform of human peptide-O-xylosyltransferase, displays enzymatic activity". The Journal of Biological Chemistry 282 (9): 5984–90. Mar 2007. doi:10.1074/jbc.M608087200. PMID 17194707.
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