AlphaFold predicted structure
PEX7 · O00628
Mean pLDDT
95.0/ 100
Very high
323 residues
Confidence breakdown
- Very high(≥ 90)92%
- Confident(70–90)5%
- Low(50–70)2%
- Very low(< 50)2%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
PEX7
Chr 6q23.3peroxisomal biogenesis factor 7
- Aliases:
- PTS2R, RD
- MANE:
- ENST00000318471.5
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Adult onset leukodystrophy
BIALLELIC, autosomal or pseudoautosomalArthrogryposis
BIALLELIC, autosomal or pseudoautosomalBilateral congenital or childhood onset cataracts
BIALLELIC, autosomal or pseudoautosomalChondrodysplasia punctata
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalFetal hydrops
BIALLELIC, autosomal or pseudoautosomalHereditary neuropathy
BIALLELIC, autosomal or pseudoautosomal
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Disease associations (Open Targets)
rhizomelic chondrodysplasia punctata type 1
0.82Refsum disease
0.82rhizomelic chondrodysplasia punctata
0.77adult Refsum disease
0.64Joubert syndrome and related disorders
0.51hereditary disease
0.49neurodegenerative disease
0.48peroxisome biogenesis disorder
0.48connective tissue disorder
0.39Peroxisome biogenesis disorder-Zellweger syndrome spectrum
0.38
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Peroxisomal targeting signal 2 receptor
Receptor required for the peroxisomal import of proteins containing an N-terminal PTS2-type peroxisomal targeting signal (PubMed:11931631, PubMed:22057399, PubMed:25538232, PubMed:9090381, PubMed:40739340). Specifically binds to cargo proteins containing a PTS2 peroxisomal targeting signal in the cytosol (PubMed:11931631, PubMed:22057399, PubMed:25538232). Cargo protein-binding triggers interaction with PEX5 and formation of a ternary complex composed of PEX5 and PEX7 along with PTS2-containing cargo proteins, which is translocated into peroxisomes by passing through the PEX13-PEX14 docking complex (PubMed:11546814, PubMed:25538232)