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peroxisomal targeting signal 2 receptor; PTS2 receptor; peroxin-7 (PEX7 PTS2R)
Function:
- binds to the N-terminal PTS2-type peroxisomal targeting signal & plays an essential role in peroxisomal protein import
- interacts with PEX5
Structure:
- belongs to the WD repeat peroxin-7 family
- contains 6 WD repeats
Compartment: peroxisome. cytoplasm
Expression:
- ubiquitous
- highest expression in pancreas, skeletal muscle & heart
Pathology:
- defects in PEX7 are the cause of
a) peroxisome biogenesis disorder complementation group 11
b) rhizomelic chondrodysplasia punctata type 1
- defects in PEX7 are a cause of Refsum disease
Laboratory:
- PEX7 gene mutation
Related
PEX7 (peroxisomal targeting signal 2 receptor) gene
rhizomelic chondrodysplasia punctata
General
peroxisomal membrane protein (peroxin)
receptor
WD repeat protein family
Properties
SIZE: entity length = 323 aa
MW = 36 kD
COMPARTMENT: peroxisome
cytoplasm
MOTIF: WD repeat {65-96}
WD repeat {109-141}
WD repeat {153-184}
WD repeat {196-227}
WD repeat {240-271}
WD repeat {284-315}
Database Correlations
OMIM correlations
MORBIDMAP 601757
UniProt O00628
Pfam PF00400
Entrez Gene 5191
Kegg hsa:5191
References
- UniProt :accession O00628
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=PEX7