PEX6
Chr 6ARADperoxisomal biogenesis factor 6
Also known as: HMLR2, PAF-2, PAF2, PBD4A, PDB4B, PXAAA1
The protein is a cytoplasmic AAA family ATPase that directly imports proteins into peroxisomes and is required for PTS1 receptor activity. Mutations cause autosomal recessive peroxisome biogenesis disorders including Zellweger syndrome (PBD4A), milder PBD4B, and Heimler syndrome 2, as well as autosomal dominant disease. The pathogenic mechanism involves dominant-negative effects disrupting peroxisomal protein import.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
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.
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PEX6 · 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