PEX5
Chr 12ARperoxisomal biogenesis factor 5
Also known as: PBD2A, PBD2B, PTS1-BP, PTS1R, PXR1, RCDP5
The protein functions as a receptor that binds to C-terminal PTS1-type peroxisomal targeting signals and mediates the import of proteins into the peroxisome matrix. Autosomal recessive mutations cause peroxisome biogenesis disorders including Zellweger syndrome, neonatal adrenoleukodystrophy, infantile Refsum disease, and rhizomelic chondrodysplasia punctata type 5. These conditions result from defective peroxisomal protein import, leading to multiple defects in peroxisome function.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
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
500 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 22 | 1 | 8 | 0 | 31 |
Likely Pathogenic | 15 | 2 | 1 | 0 | 18 |
VUS | 4 | 68 | 3 | 3 | 78 |
Likely Benign | 2 | 3 | 180 | 165 | 350 |
Benign | 1 | 0 | 5 | 1 | 7 |
Conflicting | — | 1 | |||
| Total | 44 | 74 | 197 | 169 | 485 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
PEX5 · 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