PEX2
Chr 8ARperoxisomal biogenesis factor 2
Also known as: PAF1, PBD5A, PBD5B, PMP3, PMP35, PXMP3, RNF72, ZWS3
The protein is an integral peroxisomal membrane protein required for peroxisome biogenesis and peroxisomal matrix protein import. Mutations cause peroxisome biogenesis disorders including Zellweger syndrome and infantile Refsum disease through autosomal recessive inheritance. The pathogenic mechanism involves dominant-negative effects disrupting normal peroxisome function.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PEX2 · 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
The Myelin Disorders Biorepository Project
RECRUITINGLongitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)
RECRUITINGLongitudinal Prospective Natural History Study of Retinopathy in Zellweger Spectrum Disorder
RECRUITINGExternal Resources
Links to major genomics databases and tools