PEX1
Chr 7ARperoxisomal biogenesis factor 1
Also known as: HMLR1, PBD1A, PBD1B, ZWS, ZWS1
The protein functions as an AAA ATPase that forms heteromeric complexes at peroxisomal membranes to import proteins into peroxisomes and facilitate peroxisome biogenesis. Mutations cause autosomal recessive peroxisome biogenesis disorders including Zellweger syndrome, neonatal adrenoleukodystrophy, infantile Refsum disease, and Heimler syndrome 1. The pathogenic mechanism involves loss of function leading to defective peroxisomal protein import and impaired peroxisome assembly.
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.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PEX1 · 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