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Genetics Home Reference: your guide to understanding genetic conditions
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EIF2B5

Reviewed October 2007

What is the official name of the EIF2B5 gene?

The official name of this gene is “eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa.”

EIF2B5 is the gene's official symbol. The EIF2B5 gene is also known by other names, listed below.

What is the normal function of the EIF2B5 gene?

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.

How are changes in the EIF2B5 gene related to health conditions?

leukoencephalopathy with vanishing white matter - caused by mutations in the EIF2B5 gene

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.

Where is the EIF2B5 gene located?

Cytogenetic Location: 3q27.1

Molecular Location on chromosome 3: base pairs 184,135,021 to 184,145,310

The EIF2B5 gene is located on the long (q) arm of chromosome 3 at position 27.1.

The EIF2B5 gene is located on the long (q) arm of chromosome 3 at position 27.1.

More precisely, the EIF2B5 gene is located from base pair 184,135,021 to base pair 184,145,310 on chromosome 3.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about EIF2B5?

You and your healthcare professional may find the following resources about EIF2B5 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the EIF2B5 gene or gene products?

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

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding EIF2B5?

cell ; gene ; GTP ; guanine ; leukoencephalopathy ; neurological ; nucleotide ; ovarian ; protein ; stress ; subunit ; synthesis ; translation ; white matter

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

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. (http://www.ncbi.nlm.nih.gov/pubmed/15723074?dopt=Abstract)
  • Eurekah Bioscience: Mechanism of Translation Initiation in Eukaryotes (http://www.ncbi.nlm.nih.gov/books/NBK6597/)
  • Fogli A, Boespflug-Tanguy O. The large spectrum of eIF2B-related diseases. Biochem Soc Trans. 2006 Feb;34(Pt 1):22-9. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16246171?dopt=Abstract)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/15054402?dopt=Abstract)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/15060152?dopt=Abstract)
  • Molecular Biology of the Cell (fourth edition, 2002): The Phosphorylation of an Initiation Factor Globally Regulates Protein Synthesis (http://www.ncbi.nlm.nih.gov/books/NBK26890/)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/8893)
  • OMIM: EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 5 (http://omim.org/entry/603945)
  • Pavitt GD. eIF2B, a mediator of general and gene-specific translational control. Biochem Soc Trans. 2005 Dec;33(Pt 6):1487-92. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16246152?dopt=Abstract)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/16807905?dopt=Abstract)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/16998732?dopt=Abstract)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/16545608?dopt=Abstract)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/16141786?dopt=Abstract)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/16825957?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: October 2007
Published: August 18, 2014