MAGI1
Chr 3membrane associated guanylate kinase, WW and PDZ domain containing 1
Also known as: AIP-3, AIP3, BAIAP1, BAP-1, BAP1, MAGI-1, MAGI-1b, Magi1d
MAGI1 encodes a scaffolding protein that assembles multiprotein complexes at cell-cell junctions and couples actin fibers to junctions in endothelial cells. Mutations cause autosomal recessive intellectual disability with seizures and spasticity, typically presenting in early childhood. The gene is highly constrained against loss-of-function variants (LOEUF 0.334), indicating intolerance to protein disruption.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MAGI1 · 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