PEX7
Chr 6ARperoxisomal biogenesis factor 7
Also known as: PBD9B, PTS2R, RCDP1, RD
Encodes the cytosolic receptor for peroxisomal matrix enzymes that contain peroxisome targeting signal 2 (PTS2), facilitating their import into peroxisomes. Mutations cause autosomal recessive peroxisome biogenesis disorders including rhizomelic chondrodysplasia punctata type 1 and peroxisome biogenesis disorder 9B through impaired import of peroxisomal matrix proteins. The pathogenic mechanism involves defective peroxisomal protein targeting, leading to multiple peroxisomal functional defects.
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
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
PEX7 · 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)
RECRUITINGRare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
RECRUITINGInherited Retinal Degenerative Disease Registry
RECRUITINGExternal Resources
Links to major genomics databases and tools