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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene Review: 

EIF2B2  -  eukaryotic translation initiation factor...

Homo sapiens

Synonyms: EIF-2Bbeta, EIF2B, EIF2BB, S20I15, S20III15, ...
 
 
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High impact information on EIF2B2

  • We have identified mutations in EIF2B5 and EIF2B2, encoding the epsilon- and beta-subunits of the translation initiation factor eIF2B and located on chromosomes 3q27 and 14q24, respectively, as causing VWM [1].
  • We also found two distantly related individuals who were homozygous with respect to a missense mutation in EIF2B2, affecting a conserved amino acid [1].
  • A homozygous point mutation in the EIF2B2 gene was found, 638A>G [2].
 

Biological context of EIF2B2

  • The process of localization and identification of the first two genes related to VWM, EIF2B5 and EIF2B2, was facilitated by two founder effects in the Dutch population [3].

References

  1. Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter. Leegwater, P.A., Vermeulen, G., Könst, A.A., Naidu, S., Mulders, J., Visser, A., Kersbergen, P., Mobach, D., Fonds, D., van Berkel, C.G., Lemmers, R.J., Frants, R.R., Oudejans, C.B., Schutgens, R.B., Pronk, J.C., van der Knaap, M.S. Nat. Genet. (2001) [Pubmed]
  2. Leukoencephalopathy with vanishing white matter due to homozygous EIF2B2 gene mutation. First Polish cases. Mierzewska, H., van der Knaap, M.S., Scheper, G.C., Jurkiewicz, E., Schmidt-Sidor, B., Szymańska, K. Folia neuropathologica / Association of Polish Neuropathologists and Medical Research Centre, Polish Academy of Sciences. (2006) [Pubmed]
  3. Vanishing white matter disease: a review with focus on its genetics. Pronk, J.C., van Kollenburg, B., Scheper, G.C., van der Knaap, M.S. Mental retardation and developmental disabilities research reviews. (2006) [Pubmed]
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