XYLT2

XYLT2

XYLT2

Protein-coding gene in the species Homo sapiens

Xylosyltransferase 2 is an enzyme that in humans is encoded by the XYLT2 gene.[5][6]

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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

  1. [1]
    GRCh38: Ensembl release 89: ENSG00000015532 – Ensembl, May 2017
  2. [2]
    GRCm38: Ensembl release 89: ENSMUSG00000020868 – Ensembl, May 2017
  3. [3]
    "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. [4]
    "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. [5]
    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.
  6. [6]
    "Entrez Gene: XYLT2 xylosyltransferase II".
  7. [7]
    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

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