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Gene Review

Emd  -  emerin

Rattus norvegicus

Synonyms: Emerin
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Disease relevance of Emd


High impact information on Emd

  • On the basis of the mutations present in these patients, it would appear that emerin possesses two non-overlapping nuclear envelope targeting sequences [1].
  • Aberrant intracellular targeting and cell cycle-dependent phosphorylation of emerin contribute to the Emery-Dreifuss muscular dystrophy phenotype [1].
  • We have also demonstrated that emerin can occur in four different phosphorylated forms, three of which appear to be associated with the cell cycle [1].
  • We have expressed full-length recombinant human emerin in an in vitro coupled reticulocyte system; it has a molecular mass of 34 kDa, inserts into microsomes in a type II orientation, and does not exhibit any N-linked glycosylation or cleavage event [1].
  • Expression and subcellular distribution of emerin were studied in lymphoblastoid cell lines established from four patients with Emery-Dreifuss muscular dystrophy containing different mutations in the emerin gene [1].

Biological context of Emd


Anatomical context of Emd


Associations of Emd with chemical compounds

  • To verify whether emerin is contained in these membrane stacks, we have induced the formation of AL by exposure of rat cells (line RV-SMC) to sublethal doses of the antimitotic drug vinblastine sulfate and found that emerin is present in the nuclear envelope, but is absent from AL [3].
  • However, the RNA level of emerin was not altered under these conditions, implying that the parallel induction of emerin is independent of the sterol regulatory element binding regulation pathway [2].
  • To investigate whether sterol regulatory element binding proteins or indirectly cholesterol activates the transcription of stearoyl CoA desaturase and emerin, we cultured Chinese hamster ovary (CHO), either in cholesterol-rich or cholesterol-depleted mediums [2].

Other interactions of Emd


Analytical, diagnostic and therapeutic context of Emd


  1. Aberrant intracellular targeting and cell cycle-dependent phosphorylation of emerin contribute to the Emery-Dreifuss muscular dystrophy phenotype. Ellis, J.A., Craxton, M., Yates, J.R., Kendrick-Jones, J. J. Cell. Sci. (1998) [Pubmed]
  2. Induction of stearoyl CoA desaturase is associated with high-level induction of emerin RNA. Mziaut, H., Korza, G., Elkahloun, A.G., Ozols, J. Biochem. Biophys. Res. Commun. (2001) [Pubmed]
  3. Distribution of emerin during the cell cycle. Dabauvalle, M.C., Müller, E., Ewald, A., Kress, W., Krohne, G., Müller, C.R. Eur. J. Cell Biol. (1999) [Pubmed]
  4. Emerin increase in regenerating muscle fibers. Squarzoni, S., Sabatelli, P., Capanni, C., Lattanzi, G., Rutigliano, C., Columbaro, M., Mattioli, E., Rocca, M., Maraldi, N.M. European journal of histochemistry : EJH. (2005) [Pubmed]
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