MTMR1

MTMR1

Myotubularin related protein 1, also known as MTMR1, is a human gene.cite web | title = Entrez Gene: MTMR1 myotubularin related protein 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8776| accessdate = ]

PBB_Summary
section_title =
summary_text = This gene encodes a member of the myotubularin related family of proteins. Members of this family contain the consensus sequence for the active site of protein tyrosine phosphatases. Alternatively spliced variants have been described but their biological validity has not been determined.cite web | title = Entrez Gene: MTMR1 myotubularin related protein 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8776| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Laporte J, Hu LJ, Kretz C, "et al." |title=A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. |journal=Nat. Genet. |volume=13 |issue= 2 |pages= 175–82 |year= 1996 |pmid= 8640223 |doi= 10.1038/ng0696-175
*cite journal | author=Laporte J, Blondeau F, Buj-Bello A, "et al." |title=Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human. |journal=Hum. Mol. Genet. |volume=7 |issue= 11 |pages= 1703–12 |year= 1998 |pmid= 9736772 |doi=
*cite journal | author=Kioschis P, Wiemann S, Heiss NS, "et al." |title=Genomic organization of a 225-kb region in Xq28 containing the gene for X-linked myotubular myopathy (MTM1) and a related gene (MTMR1). |journal=Genomics |volume=54 |issue= 2 |pages= 256–66 |year= 1999 |pmid= 9828128 |doi= 10.1006/geno.1998.5560
*cite journal | author= |title=Toward a complete human genome sequence. |journal=Genome Res. |volume=8 |issue= 11 |pages= 1097–108 |year= 1999 |pmid= 9847074 |doi=
*cite journal | author=Laporte J, Blondeau F, Buj-Bello A, Mandel JL |title=The myotubularin family: from genetic disease to phosphoinositide metabolism. |journal=Trends Genet. |volume=17 |issue= 4 |pages= 221–8 |year= 2001 |pmid= 11275328 |doi=
*cite journal | author=Kim SA, Taylor GS, Torgersen KM, Dixon JE |title=Myotubularin and MTMR2, phosphatidylinositol 3-phosphatases mutated in myotubular myopathy and type 4B Charcot-Marie-Tooth disease. |journal=J. Biol. Chem. |volume=277 |issue= 6 |pages= 4526–31 |year= 2002 |pmid= 11733541 |doi= 10.1074/jbc.M111087200
*cite journal | author=Laporte J, Liaubet L, Blondeau F, "et al." |title=Functional redundancy in the myotubularin family. |journal=Biochem. Biophys. Res. Commun. |volume=291 |issue= 2 |pages= 305–12 |year= 2002 |pmid= 11846405 |doi= 10.1006/bbrc.2002.6445
*cite journal | author=Buj-Bello A, Furling D, Tronchère H, "et al." |title=Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells. |journal=Hum. Mol. Genet. |volume=11 |issue= 19 |pages= 2297–307 |year= 2003 |pmid= 12217958 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |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= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Ota T, Suzuki Y, Nishikawa T, "et al." |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285

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  • GRAM domain — Pfam box Symbol = GRAM Name = width =250 caption = Myotubularin related protein 2 Pfam= PF02893 InterPro= IPR004182 SMART= GRAM Prosite = SCOP = 1lw3 TCDB = OPM family= 176 OPM protein= 1zvr PDB=PDB3|1lw3A:75 139 PDB3|1m7rA:75 139 PDB3|1zsqA:75… …   Wikipedia

  • Myotubularin 1 — Identifiers Symbols MTM1; CNM; MTMX; XLMTM External IDs OMIM: …   Wikipedia

  • Myotubularin — related Structure of a phosphoinositide phosphatase.[1] Identifiers Symbol Myo …   Wikipedia

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