EIF2S3
Chr XXLReukaryotic translation initiation factor 2 subunit gamma
Also known as: EIF2, EIF2G, EIF2gamma, MEHMO, MRXSBRK, eIF-2gA, eIF2gX
The gamma subunit of eukaryotic initiation factor 2 (eIF2) forms a ternary complex with GTP and initiator tRNA that binds to the 40S ribosomal subunit during the early steps of protein synthesis. X-linked recessive mutations cause MEHMO syndrome, a severe neurodevelopmental disorder characterized by intellectual disability, epilepsy, hypogonadism, microcephaly, and obesity. This gene is highly constrained against loss-of-function variants (pLI 0.96), reflecting the critical nature of protein synthesis initiation in cellular function.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Highly missense-constrained (top ~0.1%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
EIF2S3 · 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