MAGOH
Chr 1mago homolog, exon junction complex subunit
Also known as: MAGOH1, MAGOHA
The protein is a core component of the exon junction complex that is required for pre-mRNA splicing, mRNA export, and nonsense-mediated decay pathways. Mutations cause microcephaly with simplified gyral pattern, intellectual disability, and seizures, following an autosomal recessive inheritance pattern. The gene is highly constrained against loss-of-function variants, indicating intolerance to protein-disrupting mutations.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MAGOH · 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