GDI1
Chr XXLDGDP dissociation inhibitor 1
GDP dissociation inhibitor 1 regulates the GDP/GTP exchange reaction of Rab proteins, which are essential for vesicular trafficking between cellular organelles. Mutations cause X-linked intellectual developmental disorder, with the gene being highly constrained against loss-of-function variants (pLI 0.99, LOEUF 0.19). The protein is expressed primarily in neural and sensory tissues and follows X-linked inheritance.
Moderate evidence — consider for supplementary testing
Some data sources returned errors (1)
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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
GDI1 · 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