PEX19
Chr 1ARperoxisomal biogenesis factor 19
Also known as: D1S2223E, HK33, PBD12A, PMP1, PMPI, PXF, PXMP1
PEX19 encodes a cytosolic chaperone and import receptor that is essential for importing peroxisomal membrane proteins and early peroxisomal biogenesis. Mutations cause Zellweger syndrome and other peroxisome biogenesis disorders through an autosomal recessive inheritance pattern, resulting in defective import of peroxisomal matrix proteins and multiple peroxisomal dysfunction. These disorders are characterized as lethal conditions with multiple organ system involvement due to the failure of peroxisome assembly and function.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
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
PEX19 · 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