PEX14
Chr 1ARperoxisomal biogenesis factor 14
Also known as: NAPP2, PBD13A, Pex14p, dJ734G22.2
The protein is an essential component of the peroxisomal import machinery that integrates into peroxisome membranes and interacts with cytosolic receptors for proteins containing PTS1 peroxisomal targeting signals. Mutations cause peroxisome biogenesis disorder 13A (Zellweger syndrome), inherited in an autosomal recessive pattern. The pathogenic mechanism involves disruption of peroxisomal protein import, leading to defective peroxisome biogenesis.
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
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PEX14 · 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