Myotubularin 1 (MTM1)

CNM; MTMX; CG2; XLMTM; Myotubular Myopathy 1; Phosphatidylinositol-3-phosphate phosphatase; Phosphatidylinositol-3,5-bisphosphate 3-phosphatase

SPN	U205
HGNC	7448
MGI	1099452
PubMed	10900271
RGD	1304582
UniProt	Q13496
Wiki	Myotubularin_1

Myotubularin 1 is a member of a gene family that encodes tyrosine phosphatases. Myotubularin is required for muscle cell differentiation and mutations in this gene have been identified as being responsible for X-linked myotubular myopathy.The protein encoded by the MTM1 gene, designated myotubularin, was found to be highly conserved in yeast. The protein contains the consensus sequence for the active site of tyrosine phosphatases, a wide class of proteins involved in signal transduction. Preliminary Northern analysis showed ubiquitous expression of a 3.9-kb MTM1 transcript, while a 2.4-kb message was detected in skeletal muscle and testis. Both the high conservation in yeast and the ubiquitous expression of the MTM1 transcript contrasted strikingly with the apparent muscle specificity of the disease myotubular myopathy.

Reference

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Nat. Genet. 13:175-182(1996) [PubMed] [Europe PMC] [Abstract]

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Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

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Nat. Genet. 18:331-337(1998) [PubMed] [Europe PMC] [Abstract]

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Hum. Mutat. 15:393-409(2000) [PubMed] [Europe PMC] [Abstract]

"Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway."
Hum. Mol. Genet. 9:2223-2229(2000) [PubMed] [Europe PMC] [Abstract]

"Myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate."
Proc. Natl. Acad. Sci. U.S.A. 97:8910-8915(2000) [PubMed] [Europe PMC] [Abstract]

"The PtdIns3P phosphatase myotubularin is a cytoplasmic protein that also localizes to Rac1-inducible plasma membrane ruffles."
J. Cell Sci. 115:3105-3117(2002) [PubMed] [Europe PMC] [Abstract]

"Phosphatidylinositol-5-phosphate activation and conserved substrate specificity of the myotubularin phosphatidylinositol 3-phosphatases."
Curr. Biol. 13:504-509(2003) [PubMed] [Europe PMC] [Abstract]

"Identification of myotubularin as the lipid phosphatase catalytic subunit associated with the 3-phosphatase adapter protein, 3-PAP."
Proc. Natl. Acad. Sci. U.S.A. 100:8660-8665(2003) [PubMed] [Europe PMC] [Abstract]

"Myotubularin regulates the function of the late endosome through the gram domain-phosphatidylinositol 3,5-bisphosphate interaction."
J. Biol. Chem. 279:13817-13824(2004) [PubMed] [Europe PMC] [Abstract]

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BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

"Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle."
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"SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy."
Am. J. Hum. Genet. 95:218-226(2014) [PubMed] [Europe PMC] [Abstract]

"Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy."
Hum. Mol. Genet. 6:1499-1504(1997) [PubMed] [Europe PMC] [Abstract]

"Mutations in the MTM1 gene implicated in X-linked myotubular myopathy."
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"MTM1 gene mutations in Japanese patients with the severe infantile form of myotubular myopathy."
Neuromuscul. Disord. 8:453-458(1998) [PubMed] [Europe PMC] [Abstract]

"Germline mosaicism in X-linked myotubular myopathy."
Clin. Genet. 56:77-81(1999) [PubMed] [Europe PMC] [Abstract]

"Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy."
Hum. Mutat. 14:320-325(1999) [PubMed] [Europe PMC] [Abstract]

"Characterization of 34 novel and six known MTM1 gene mutations in 47 unrelated X-linked myotubular myopathy patients."
Neuromuscul. Disord. 9:41-49(1999) [PubMed] [Europe PMC] [Abstract]

"Characterization of mutations in fifty North American patients with X-linked myotubular myopathy."
Hum. Mutat. 19:114-121(2002) [PubMed] [Europe PMC] [Abstract]

"Rapid scanning of myotubularin (MTM1) gene by denaturing high-performance liquid chromatography (DHPLC)."
Neuromuscul. Disord. 12:501-505(2002) [PubMed] [Europe PMC] [Abstract]

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"Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype."
Hum. Genet. 112:135-142(2003) [PubMed] [Europe PMC] [Abstract]

"Extreme phenotypic variability in a German family with X-linked myotubular myopathy associated with E404K mutation in MTM1."
Neuromuscul. Disord. 16:749-753(2006) [PubMed] [Europe PMC] [Abstract]

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