Eukaryotic initiation factor 2B (EIF2B), which is necessary for protein synthesis, is a GTP exchange factor composed of five different subunits. The protein encoded by this gene is the fourth, or delta, subunit. Defects in this gene are a cause of leukoencephalopathy with vanishing white matter (VWM) and ovarioleukodystrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].
Wu, Pan, Du, Wang, Gu, Gao, Li, Leng, Qin, Wu, Jiang: "Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease." in: Journal of human genetics, Vol. 54, Issue 2, pp. 74-7, (2009) (PubMed).