| MTMR14 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | MTMR14, C3orf29, myotubularin related protein 14 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 611089 MGI: 1916075 HomoloGene: 11203 GeneCards: MTMR14 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Myotubularin related protein 14 also known as MTMR14 is a protein which in humans is encoded by the MTMR14 gene.[5]
Function
Expression of Mtmr14 increased with myotubule formation and differentiation. MTMR14 is a phosphatidylinositol-3-phosphatase that dephosphorylates the same substrates as myotubularin, PtdIns(3)P and PtdIns(3,5)P2.[6]
Clinical significance
Mutations in the MTMR14 gene are associated with myotubular myopathy.[6]
References
- 1 2 3 GRCh38: Ensembl release 89: ENSG00000163719 - Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000030269 - 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.
- ↑ Alonso A, Sasin J, Bottini N, Friedberg I, Friedberg I, Osterman A, Godzik A, Hunter T, Dixon J, Mustelin T (June 2004). "Protein tyrosine phosphatases in the human genome". Cell. 117 (6): 699–711. doi:10.1016/j.cell.2004.05.018. PMID 15186772. S2CID 18072568.
- 1 2 Tosch V, Rohde HM, Tronchère H, Zanoteli E, Monroy N, Kretz C, Dondaine N, Payrastre B, Mandel JL, Laporte J (November 2006). "A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy". Hum. Mol. Genet. 15 (21): 3098–106. doi:10.1093/hmg/ddl250. PMID 17008356.
Further reading
- Yu W, Andersson B, Worley KC, et al. (1997). "Large-scale concatenation cDNA sequencing". Genome Res. 7 (4): 353–8. doi:10.1101/gr.7.4.353. PMC 139146. PMID 9110174.
- Andersson B, Wentland MA, Ricafrente JY, et al. (1996). "A "double adaptor" method for improved shotgun library construction". Anal. Biochem. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
- Simpson JC, Wellenreuther R, Poustka A, et al. (2000). "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing". EMBO Rep. 1 (3): 287–92. doi:10.1093/embo-reports/kvd058. PMC 1083732. PMID 11256614.
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