This gene encodes one of five subunits of eukaryotic translation initiation factor 2B (EIF2B), a GTP exchange factor for eukaryotic initiation factor 2 and an essential regulator for protein synthesis. Mutations in this gene and the genes encoding other EIF2B subunits have been associated with leukoencephalopathy with vanishing white matter. [provided by RefSeq, Nov 2009].
Wortham, Stewart, Harris, Coldwell, Proud: "Stoichiometry of the eIF2B complex is maintained by mutual stabilization of subunits." in: The Biochemical journal, Vol. 473, Issue 5, pp. 571-80, (2016) (PubMed).