PEX7
Function
Receptor required for the peroxisomal import of proteins containing a C-terminal PTS2-type peroxisomal targeting signal (PubMed:11931631, PubMed:22057399, PubMed:25538232, PubMed:9090381). 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 tranlocated into peroxisomes by passing through the PEX13-PEX14 docking complex (PubMed:11546814, PubMed:25538232).
Involvement in disease
Peroxisome biogenesis disorder complementation group 11
PBD-CG11
A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS).
None
The disease is caused by variants affecting the gene represented in this entry.
Rhizomelic chondrodysplasia punctata 1
RCDP1
A peroxisome biogenesis disorder. It is characterized by severely disturbed endochondral bone formation, rhizomelic shortening of femur and humerus, vertebral disorders, dwarfism, cataract, cutaneous lesions, facial dysmorphism, and severe intellectual disability with spasticity.
None
The disease is caused by variants affecting the gene represented in this entry.
Peroxisome biogenesis disorder 9B
PBD9B
A peroxisome biogenesis disorder with unusually mild clinical and biochemical manifestations. Affected individuals manifest a variable phenotype similar to, and in some cases indistinguishable from, classic Refsum disease. Variable features include ocular abnormalities, sensorimotor neuropathy, ichthyosis, deafness, chondrodysplasia punctata without rhizomelia or growth failure.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the WD repeat peroxin-7 family.
Tissue Specificity
Ubiquitous (PubMed:9090381). Highest expression in pancreas, skeletal muscle and heart (PubMed:9090381).
Cellular localization
- Cytoplasm
- Cytosol
- Peroxisome matrix
- Translocated into the peroxisome matrix together with PTS2-containing cargo proteins and PEX5.
Alternative names
PTS2R, PEX7, Peroxisomal targeting signal 2 receptor, PTS2 receptor, Peroxin-7