GLE1
Chr 9ARGLE1 RNA export mediator
Also known as: CAAHC, CAAHD, GLE1L, LCCS, LCCS1, hGLE1
The protein is required for export of polyadenylated mRNAs from the nucleus to the cytoplasm through nuclear pore complexes. Mutations cause arthrogryposis multiplex congenita neurogenic type (Lethal Congenital Contracture Syndrome) and ataxia with oculomotor apraxia, inherited in an autosomal recessive pattern. The gene is highly constrained against loss-of-function variants (pLI near 0, LOEUF 0.752), reflecting its essential cellular function.
Limited evidence — not for standalone diagnostic reporting
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
GLE1 · 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