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Gene Review

MT1DP  -  metallothionein 1D, pseudogene (functional)

Homo sapiens

Synonyms: MTM
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Disease relevance of MT1DP

  • MTM1, the archetypal member of this family, is mutated in X-linked myotubular myopathy, whereas mutations in the MTM-related (MTMR)2 gene cause the type 4B1 Charcot-Marie-Tooth disease, a severe hereditary motor and sensory neuropathy [1].
  • If the recommended procedures are followed, the risk of acquiring HIV from saliva during MTM should be extremely low [2].

High impact information on MT1DP

  • The interacting protein was shown by mass spectrometry to be MTMR5, a catalytically inactive member of the MTM family [1].
  • Recent studies revealed that MTM dephosphorylates specifically phosphatidylinositol 3-phosphate [3].
  • Eight MTM-related genes were found in the human genome and we determined the chromosomal localization and expression pattern for most of them [4].
  • We have studied the inheritance of several polymorphic Xq27/28 DNA marker loci in two three generation families with the X linked neonatal lethal form of centronuclear/myotubular myopathy (XL MTM) [5].
  • After cooling for 20 minutes and undergoing a buffer rinse, the slides were placed in a Dako autostainer (Dako-USA, Carpinteria, California, U.S.A.). The P16INK4A primary antibody, clone E6H4 (MTM Laboratories, Heidelberg, Germany) was diluted 1:200 in antibody diluent buffer [6].

Biological context of MT1DP

  • Patterns of electromyographic shoulder muscle fatigue during MTM-paced repetitive arm work with and without pauses [7].

Associations of MT1DP with chemical compounds

  • Myotubularins (MTM) are a large subfamily of lipid phosphatases that specifically dephosphorylate at the D3 position of phosphatidylinositol 3-phosphate (PI(3)P) in PI(3)P and PI(3,5)P(2) [8].
  • Whereas a few bands might be unique to one method of isolation, most bands are the same in hexylene glycol MA and MTM MA [9].
  • MA were isolated using two different stabilization media, hexylene glycol and glycerol-dimethylsulphoxide ( MTM ), because previous studies have shown that MA isolated with these solutions have different properties [9].
  • The usual measured transmission method using caesium-137 single-photon sources was used without (MTM) and with segmentation of the TX data (STM) [10].

Analytical, diagnostic and therapeutic context of MT1DP

  • MTM emergency lung ventilator [11].
  • For health care and public safety professionals training and performance of MTM ventilation during CPR should be carried out with barrier devices such as the bag-valve-mask or face shield [2].


  1. Regulation of myotubularin-related (MTMR)2 phosphatidylinositol phosphatase by MTMR5, a catalytically inactive phosphatase. Kim, S.A., Vacratsis, P.O., Firestein, R., Cleary, M.L., Dixon, J.E. Proc. Natl. Acad. Sci. U.S.A. (2003) [Pubmed]
  2. Risk of acquiring AIDS from salivary exchange through cardiopulmonary resuscitation courses and mouth-to-mouth resuscitation. Sun, D., Bennett, R.B., Archibald, D.W. Seminars in dermatology. (1995) [Pubmed]
  3. Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot-Marie-Tooth disease type 4B1. Berger, P., Bonneick, S., Willi, S., Wymann, M., Suter, U. Hum. Mol. Genet. (2002) [Pubmed]
  4. Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human. Laporte, J., Blondeau, F., Buj-Bello, A., Tentler, D., Kretz, C., Dahl, N., Mandel, J.L. Hum. Mol. Genet. (1998) [Pubmed]
  5. X linked neonatal centronuclear/myotubular myopathy: evidence for linkage to Xq28 DNA marker loci. Thomas, N.S., Williams, H., Cole, G., Roberts, K., Clarke, A., Liechti-Gallati, S., Braga, S., Gerber, A., Meier, C., Moser, H. J. Med. Genet. (1990) [Pubmed]
  6. Procedure for immunocytochemical detection of P16INK4A antigen in thin-layer, liquid-based specimens. Bibbo, M., Klump, W.J., DeCecco, J., Kovatich, A.J. Acta Cytol. (2002) [Pubmed]
  7. Patterns of electromyographic shoulder muscle fatigue during MTM-paced repetitive arm work with and without pauses. Sundelin, G. International archives of occupational and environmental health. (1993) [Pubmed]
  8. Specificity of the Myotubularin Family of Phosphatidylinositol-3-phosphatase Is Determined by the PH/GRAM Domain. Choudhury, P., Srivastava, S., Li, Z., Ko, K., Albaqumi, M., Narayan, K., Coetzee, W.A., Lemmon, M.A., Skolnik, E.Y. J. Biol. Chem. (2006) [Pubmed]
  9. Composition of the isolated mitotic apparatus: analysis by polyacrylamide gel electrophoresis. Forer, A., Zimmerman, A.M. Cytobios (1984) [Pubmed]
  10. Attenuation compensation in cerebral 3D PET: effect of the attenuation map on absolute and relative quantitation. Zaidi, H., Montandon, M.L., Slosman, D.O. Eur. J. Nucl. Med. Mol. Imaging (2004) [Pubmed]
  11. MTM emergency lung ventilator. Cramond, T., O'Callaghan, J.P. Anaesthesia and intensive care. (1985) [Pubmed]
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