View source for MTMR14

{{Infobox_gene}}

'''Myotubularin related protein 14''' also known as '''MTMR14''' is a [[protein]] which in humans is encoded by the ''MTMR14''  [[gene]].<ref name="pmid15186772">{{cite journal |vauthors=Alonso A, Sasin J, Bottini N, Friedberg I, Friedberg I, Osterman A, Godzik A, Hunter T, Dixon J, Mustelin T | title = Protein tyrosine phosphatases in the human genome | journal = Cell | volume = 117 | issue = 6 | pages = 699–711 |date=June 2004 | pmid = 15186772 | doi = 10.1016/j.cell.2004.05.018 | url = | issn = }}</ref>

== Function ==

Expression of Mtmr14 increased with myotubule formation and differentiation.  MTMR14 is a [[phosphatidylinositol-3-phosphatase]] that [[dephosphorylation|dephosphorylates]] the same substrates as [[myotubularin]], PtdIns(3)P and PtdIns(3,5)P2.<ref name="pmid17008356">{{cite journal |vauthors=Tosch V, Rohde HM, Tronchère H, Zanoteli E, Monroy N, Kretz C, Dondaine N, Payrastre B, Mandel JL, Laporte J | title = A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy | journal = Hum. Mol. Genet. | volume = 15 | issue = 21 | pages = 3098–106 |date=November 2006 | pmid = 17008356 | doi = 10.1093/hmg/ddl250 | url = | issn = }}</ref>

== Clinical significance ==

Mutations in the ''MTMR14'' gene are associated with [[centronuclear myopathy|myotubular myopathy]].<ref name="pmid17008356"/>

== References ==
{{Reflist}}

==Further reading==
{{refbegin | 2}}
*{{cite journal   |vauthors=Yu W, Andersson B, Worley KC, etal |title=Large-scale concatenation cDNA sequencing. |journal=Genome Res. |volume=7 |issue= 4 |pages= 353–8 |year= 1997 |pmid= 9110174 |doi=  10.1101/gr.7.4.353|pmc=139146  }}
*{{cite journal   |vauthors=Andersson B, Wentland MA, Ricafrente JY, etal |title=A "double adaptor" method for improved shotgun library construction. |journal=Anal. Biochem. |volume=236 |issue= 1 |pages= 107–13 |year= 1996 |pmid= 8619474 |doi= 10.1006/abio.1996.0138 }}
*{{cite journal   |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2002 |pmid= 12477932 |doi= 10.1073/pnas.242603899  |pmc=139241 }}
*{{cite journal   |vauthors=Kimura K, Wakamatsu A, Suzuki Y, etal |title=Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. |journal=Genome Res. |volume=16 |issue= 1 |pages= 55–65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406  |pmc=1356129 }}
*{{cite journal   |vauthors=Simpson JC, Wellenreuther R, Poustka A, etal |title=Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing. |journal=EMBO Rep. |volume=1 |issue= 3 |pages= 287–92 |year= 2000 |pmid= 11256614 |doi= 10.1093/embo-reports/kvd058  |pmc=1083732 }}
{{refend}}


{{gene-3-stub}}