PMP2
Chr 8ADperipheral myelin protein 2
Also known as: CMT1G, FABP8, M-FABP, MP2, P2
The protein localizes to peripheral nerve myelin sheaths where it binds membrane layers and lipids to provide structural stability to the myelin. Mutations cause Charcot-Marie-Tooth disease, demyelinating type 1G, which follows autosomal dominant inheritance. This gene shows tolerance to loss-of-function variants (low constraint scores), suggesting the pathogenic variants may work through other mechanisms.
Moderate evidence — consider for supplementary testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PMP2 · 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