PLEKHM3
Chr 2pleckstrin homology domain containing M3
This protein enables zinc ion binding and acts as a scaffold protein for AKT1 during skeletal muscle differentiation, with predicted localization to the Golgi apparatus. Mutations cause autosomal recessive intermediate Charcot-Marie-Tooth disease type C, a hereditary peripheral neuropathy. The gene is highly constrained against loss-of-function variants, suggesting intolerance to protein-disrupting mutations.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PLEKHM3 · 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