The EIF2B1 gene encodes the alpha subunit of the eukaryotic translation initiation factor (EIF2B) protein. EIF2B is a heterodecameric protein that consists of alpha, beta and delta subunits in the regulatory subcomplex, and gamma and epsilon subunits in the catalytic subcomplex. The protein functions as a GTP exchange factor for the substrate eIF2. As GTP-bound eIF2 is responsible for loading the initiator methionyl-tRNA onto the ribosome, EIF2B is essential for the initiation of protein synthesis. Recent studies have suggested that EIF2B is involved in oligodendrocyte development and the cellular response to stimulus, heat and glucose.
Mutations in this gene are associated with Leukoencephalopathy with Vanishing White Matter (VWM), a neurological disorder characterized by progressive cerebellar ataxia, spasticity, cognitive impairment and variable optic atrophy.