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EIF2B5 gene

eukaryotic translation initiation factor 2B subunit epsilon
From Genetics Home Reference. Learn more

Normal Function

The EIF2B5 gene provides instructions for making one of five parts of a protein called eIF2B, specifically the epsilon subunit of this protein. The eIF2B protein helps regulate overall protein production (synthesis) in the cell by interacting with another protein, eIF2. The eIF2 protein is called an initiation factor because it is involved in starting (initiating) protein synthesis.

Under some conditions, eIF2B increases protein synthesis by helping to recycle molecules called GTP, which carry energy to the initiation factor. Under other conditions, it slows protein synthesis by binding tightly to the initiation factor, which converts the eIF2B protein into an inactive form and prevents recycling of GTP.

Proper regulation of protein synthesis is vital for ensuring that the correct levels of protein are available for the cell to cope with changing conditions. For example, cells must synthesize protein much faster if they are multiplying than if they are in a resting state.

Health Conditions Related to Genetic Changes

Leukoencephalopathy with vanishing white matter

Mutations in the EIF2B5 gene have been identified in about 65 percent of people with leukoencephalopathy with vanishing white matter, including those with a severe, early-onset form that is seen among the Cree and Chippewayan populations of Quebec and Manitoba (Cree leukoencephalopathy) and some affected females with a variant of the disorder in which the neurological features are accompanied by ovarian failure (ovarioleukodystrophy). These mutations cause partial loss of eIF2B function. Impairment of eIF2B function makes it more difficult for the body's cells to regulate protein synthesis and deal with changing conditions and stress. Researchers believe that cells in the white matter (nerve fibers covered by a fatty substance called myelin that insulates and protects nerves) may be particularly affected by an abnormal response to stress, resulting in the signs and symptoms of leukoencephalopathy with vanishing white matter.

More About This Health Condition

Other Names for This Gene

  • CACH
  • CLE
  • EI2BE_HUMAN
  • EIF-2B
  • eIF-2B GDP-GTP exchange factor
  • EIF2Bepsilon
  • eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)
  • eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
  • LVWM

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Research Resources

References

  • Dietrich J, Lacagnina M, Gass D, Richfield E, Mayer-Pröschel M, Noble M, Torres C, Pröschel C. EIF2B5 mutations compromise GFAP+ astrocyte generation in vanishing white matter leukodystrophy. Nat Med. 2005 Mar;11(3):277-83. Epub 2005 Feb 20. Citation on PubMed
  • Eurekah Bioscience: Mechanism of Translation Initiation in Eukaryotes
  • Fogli A, Boespflug-Tanguy O. The large spectrum of eIF2B-related diseases. Biochem Soc Trans. 2006 Feb;34(Pt 1):22-9. Review. Citation on PubMed
  • Fogli A, Schiffmann R, Hugendubler L, Combes P, Bertini E, Rodriguez D, Kimball SR, Boespflug-Tanguy O. Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients. Eur J Hum Genet. 2004 Jul;12(7):561-6. Citation on PubMed
  • Li W, Wang X, Van Der Knaap MS, Proud CG. Mutations linked to leukoencephalopathy with vanishing white matter impair the function of the eukaryotic initiation factor 2B complex in diverse ways. Mol Cell Biol. 2004 Apr;24(8):3295-306. Citation on PubMed or Free article on PubMed Central
  • Molecular Biology of the Cell (fourth edition, 2002): The Phosphorylation of an Initiation Factor Globally Regulates Protein Synthesis
  • Pavitt GD. eIF2B, a mediator of general and gene-specific translational control. Biochem Soc Trans. 2005 Dec;33(Pt 6):1487-92. Review. Citation on PubMed
  • Pronk JC, van Kollenburg B, Scheper GC, van der Knaap MS. Vanishing white matter disease: a review with focus on its genetics. Ment Retard Dev Disabil Res Rev. 2006;12(2):123-8. Review. Citation on PubMed
  • Scali O, Di Perri C, Federico A. The spectrum of mutations for the diagnosis of vanishing white matter disease. Neurol Sci. 2006 Sep;27(4):271-7. Review. Citation on PubMed
  • Scheper GC, Proud CG, van der Knaap MS. Defective translation initiation causes vanishing of cerebral white matter. Trends Mol Med. 2006 Apr;12(4):159-66. Epub 2006 Mar 20. Review. Citation on PubMed
  • van der Voorn JP, van Kollenburg B, Bertrand G, Van Haren K, Scheper GC, Powers JM, van der Knaap MS. The unfolded protein response in vanishing white matter disease. J Neuropathol Exp Neurol. 2005 Sep;64(9):770-5. Citation on PubMed
  • van Kollenburg B, van Dijk J, Garbern J, Thomas AA, Scheper GC, Powers JM, van der Knaap MS. Glia-specific activation of all pathways of the unfolded protein response in vanishing white matter disease. J Neuropathol Exp Neurol. 2006 Jul;65(7):707-15. Citation on PubMed
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