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Gene Review

EIF2B4  -  eukaryotic translation initiation factor...

Homo sapiens

Synonyms: DKFZP586J0119, EIF-2B, EIF2B, EIF2BD, EIF2Bdelta, ...
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Disease relevance of EIF2B4

  • In seven patients, we report for the first time mutations in three of the five EIF2B genes (EIF2B2, -4, and -5) that were recently shown to cause childhood ataxia with central nervous system hypomyelination/vanishing white-matter disease leukodystrophy [1].


  1. Ovarian failure related to eukaryotic initiation factor 2B mutations. Fogli, A., Rodriguez, D., Eymard-Pierre, E., Bouhour, F., Labauge, P., Meaney, B.F., Zeesman, S., Kaneski, C.R., Schiffmann, R., Boespflug-Tanguy, O. Am. J. Hum. Genet. (2003) [Pubmed]
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