Eukaryotic Translation Initiation Factor 2B1 (EIF2B1)

EIF2B is a GTP exchange factor that is essential for protein synthesis. Its substrate is EIF2. EIF2B consists of alpha, beta (EIF2B2), gamma (EIF2B3), delta (EIF2B4), and epsilon (EIF2B5) subunits.Flowers et al. (1995) cloned a rat cDNA encoding Eif2b1. The deduced 305-amino acid rat protein is 92% identical to the human protein. By Northern blot analysis, Flowers et al. (1995) detected equivalent expression of rat Eif2b1 in all tissues tested; in contrast, Eif2b5 is predominantly expressed in testis. Leukoencephalopathy with vanishing white matter (VWM) is an autosomal recessive disorder characterized by a chronic and progressive course with additional episodes of rapid deterioration provoked by fever and minor head trauma.