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Gene Review

EIF2B1  -  eukaryotic translation initiation factor...

Homo sapiens

Synonyms: EIF-2B, EIF-2Balpha, EIF2B, EIF2BA, Translation initiation factor eIF-2B subunit alpha, ...
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Disease relevance of EIF2B1

  • METHODS: Ninety-three individuals (78 families) with an undetermined leukodystrophy were selected on MRI-based criteria of childhood ataxia with central hypomyelination/vanishing white matter (CACH/VWM) for EIF2B genes analysis [1].

High impact information on EIF2B1

  • The predicted amino acid sequence contains regions identical to the sequences of peptides derived from bovine liver eIF-2B alpha subunit [2].
  • Remarkably, eIF-2Balpha co-localized with receptors exclusively in regions of the plasma membrane that are in contact with the extracellular medium, but failed to associate with membranes making cell-cell contacts [3].
  • Our study demonstrates that the evaluation of the GEF activity in transformed lymphocytes represents an interesting alternative test to the systematic screening of the five EIF2B genes [4].
  • Patients without mutations in the EIF2B5 gene were found to be mutated in one of the other genes that encode eIF2B subunits: EIF2B1 to EIF2B4 [5].

Analytical, diagnostic and therapeutic context of EIF2B1

  • Association of these proteins in vivo was confirmed by specific co-immunoprecipitation of eIF-2Balpha with full-length beta2-adrenergic receptors expressed in transfected 293 cells and by fluorescence microscopy showing co-localization of these proteins in intact cells [3].


  1. The effect of genotype on the natural history of eIF2B-related leukodystrophies. Fogli, A., Schiffmann, R., Bertini, E., Ughetto, S., Combes, P., Eymard-Pierre, E., Kaneski, C.R., Pineda, M., Troncoso, M., Uziel, G., Surtees, R., Pugin, D., Chaunu, M.P., Rodriguez, D., Boespflug-Tanguy, O. Neurology (2004) [Pubmed]
  2. Molecular cloning and characterization of cDNA encoding the alpha subunit of the rat protein synthesis initiation factor eIF-2B. Flowers, K.M., Kimball, S.R., Feldhoff, R.C., Hinnebusch, A.G., Jefferson, L.S. Proc. Natl. Acad. Sci. U.S.A. (1995) [Pubmed]
  3. A novel interaction between adrenergic receptors and the alpha-subunit of eukaryotic initiation factor 2B. Klein, U., Ramirez, M.T., Kobilka, B.K., von Zastrow, M. J. Biol. Chem. (1997) [Pubmed]
  4. Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients. Fogli, A., Schiffmann, R., Hugendubler, L., Combes, P., Bertini, E., Rodriguez, D., Kimball, S.R., Boespflug-Tanguy, O. Eur. J. Hum. Genet. (2004) [Pubmed]
  5. Leukoencephalopathy with vanishing white matter: from magnetic resonance imaging pattern to five genes. Leegwater, P.A., Pronk, J.C., van der Knaap, M.S. J. Child Neurol. (2003) [Pubmed]
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