EIF2B5

EIF2B5, also known as eukaryotic translation initiation factor 2 subunit 5, is a protein-coding gene. It is a component of the eukaryotic translation initiation factor 2B (eIF2B) complex, a guanine nucleotide exchange factor crucial for protein synthesis. The eIF2B complex is a heteropentamer, meaning it consists of five subunits, and EIF2B5 is one of these subunits. This complex plays a vital role in regulating the initiation of translation, a key step in protein production. Specifically, eIF2B exchanges GDP for GTP on the eIF2 protein, a process that is essential for the formation of the ternary complex that binds to the initiator tRNA.

Mutations in the EIF2B5 gene have been associated with a group of rare, severe inherited neurological disorders known as Childhood Ataxia with Central Nervous System Hypomyelination (CACH) and also referred to as Vanishing White Matter Disease (VWM). These disorders are characterized by progressive neurological deterioration, including ataxia, spasticity, and cognitive impairment, often becoming apparent in early childhood. The underlying mechanism is believed to involve impaired protein synthesis due to dysfunctional eIF2B, leading to a lack of essential proteins required for myelin maintenance and neuron function. Research into EIF2B5 and its role in eIF2B function continues to shed light on the molecular basis of these devastating neurological conditions.