XYLT2
| XYLT2 | |||
|---|---|---|---|
| Identifiers | |||
Gene ontology | |||
| Molecular function | |||
| Cellular component | |||
| Biological process | |||
| Sources:Amigo / QuickGO | |||
Ensembl | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| UniProt | |||||||||
| RefSeq (mRNA) | |||||||||
| RefSeq (protein) | |||||||||
| Location (UCSC) | Chr 17: 50.35 – 50.36 Mb | Chr 11: 94.55 – 94.57 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
| View/Edit Human | View/Edit Mouse |
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
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
- ^ 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.
- PMID 11099377.
- ^ a b c "Entrez Gene: XYLT2 xylosyltransferase II".
- 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. 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. 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. 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. 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. 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. 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. PMID 17194707.
 | This article on a gene on human chromosome 17 is a stub. You can help Wikipedia by expanding it. |