PEX12
Chr 17ARperoxisomal biogenesis factor 12
Also known as: PAF-3, PBD3A
PEX12 encodes a peroxisome membrane protein essential for the assembly of functional peroxisomes and the import of peroxisomal matrix proteins into the organelle. Mutations cause autosomal recessive peroxisome biogenesis disorders including Zellweger syndrome (PBD3A) and PBD3B, which are lethal conditions characterized by multiple defects in peroxisome function. The pathogenic mechanism involves defective import of peroxisomal matrix proteins due to impaired peroxisome assembly.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PEX12 · 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