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EIF2B3 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

EIF2B3 gene

The EIF2B3 gene provides instructions for producing the gamma subunit of the eIF2B protein, a key regulator of cellular protein synthesis.

Normal Function

The EIF2B3 gene provides instructions for making one of five parts of a protein called eIF2B, specifically the gamma subunit. The eIF2B protein helps regulate overall protein production (synthesis) in the cell by interacting with another protein, eIF2. The eIF2 protein is called an initiation factor because it is involved in starting (initiating) protein synthesis.

Under some conditions, eIF2B increases protein synthesis by helping to recycle molecules called GTP, which carry energy to the initiation factor. Under other conditions, it slows protein synthesis by binding tightly to the initiation factor, which converts the eIF2B protein into an inactive form and prevents the recycling of GTP.

Proper regulation of protein synthesis is vital for ensuring that the correct levels of protein are available for the cell to cope with changing conditions. For example, cells must synthesize protein much faster if they are multiplying than if they are in a resting state.

Health Conditions Related to Genetic Changes

Leukoencephalopathy with vanishing white matter

Mutations in the EIF2B3 gene have been identified in a few people with leukoencephalopathy with vanishing white matter. These mutations cause partial loss of eIF2B function. Impairment of eIF2B function makes it more difficult for the body's cells to regulate protein synthesis and deal with changing conditions and stress. Researchers believe that cells in the white matter (nerve fibers covered by a fatty substance called myelin that insulates and protects nerves) may be particularly affected by an abnormal response to stress, resulting in the signs and symptoms of leukoencephalopathy with vanishing white matter.

Other Names for This Gene

  • EI2BG_HUMAN
  • EIF-2B
  • EIF2Bgamma
  • eukaryotic translation initiation factor 2B, subunit 3 (gamma, 58kD)
  • eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa

Frequently Asked Questions

Yes, some females with EIF2B3‑related disease develop ovarioleukodystrophy, presenting as primary ovarian insufficiency. Diagnosis is made by measuring elevated follicle‑stimulating hormone (FSH) and low estradiol levels, often confirmed with pelvic ultrasound showing reduced ovarian volume.
voiding acute stressors is key: treat fevers promptly with antipyretics, maintain adequate hydration, limit exposure to high‑altitude or extreme temperatures, and use protective equipment to prevent head injuries. Regular physiotherapy and a balanced diet rich in antioxidants may also support overall cellular health.
Currently, bone marrow transplantation has not shown benefit because the disease stems from a ubiquitous cellular protein, not a hematopoietic defect. Gene‑replacement strategies are under investigation in animal models, but no approved gene therapy exists for humans yet.
targeted next‑generation sequencing panel for leukodystrophies that includes EIF2B3 is the preferred first test. If the panel is negative but suspicion remains high, whole‑exome sequencing can be performed to detect rare EIF2B3 variants.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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