EIF2B3

EIF2B3, also known as eukaryotic translation initiation factor 2 subunit 3, is a gene that encodes a protein component of the eukaryotic translation initiation factor 2B complex. This complex is a guanine nucleotide exchange factor crucial for initiating protein synthesis. EIF2B3 is one of the five subunits that form the EIF2B complex. The EIF2B complex plays a critical role in regulating the rate of translation initiation by facilitating the exchange of GDP for GTP on eukaryotic translation initiation factor 2 (eIF2). This exchange is essential for eIF2 to bind to initiator tRNA and then to the 40S ribosomal subunit, a key step in assembling the translation initiation complex. Mutations in the EIF2B3 gene have been linked to a group of rare genetic disorders known as leukoencephalopathy with vanishing white matter (VWM) or childhood ataxia with central nervous system hypomyelination (CACH) syndrome. These disorders primarily affect the white matter of the brain, leading to progressive neurological dysfunction. The severity of symptoms can vary widely among affected individuals, with onset typically occurring in infancy or early childhood. Research into EIF2B3 and its role in protein synthesis and neurological development continues to advance our understanding of these complex diseases.