EIF2B3
Chr 1AReukaryotic translation initiation factor 2B subunit gamma
Also known as: EIF-2B, EIF2Bgamma, VWM3
The protein encoded by this gene is a subunit of eukaryotic initiation factor 2B (eIF2B), which catalyzes the exchange of GDP for GTP on eIF2 and is essential for protein synthesis regulation. Mutations cause leukoencephalopathy with vanishing white matter (also known as childhood ataxia with central nervous system hypomyelination), an autosomal recessive leukodystrophy characterized by progressive white matter deterioration that can be triggered by stress, fever, or minor trauma. The disease results from loss of eIF2B function, leading to impaired cellular stress responses and white matter degeneration.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
200 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 1 | 0 | 1 |
Likely Pathogenic | 2 | 3 | 1 | 0 | 6 |
VUS | 0 | 32 | 2 | 0 | 34 |
Likely Benign | 1 | 2 | 61 | 77 | 141 |
Benign | 0 | 0 | 6 | 0 | 6 |
Conflicting | — | 1 | |||
| Total | 3 | 37 | 71 | 77 | 189 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
EIF2B3 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools