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
  • peroxisome biogenesis disorder complementation group 11
  • rhizomelic chondrodysplasia punctata type 1
• defects in PEX7 are a cause of Refsum disease

Laboratory

• PEX7 gene mutation

More general terms

• peroxisomal membrane protein (peroxin)
• receptor
• WD repeat protein family

Additional terms

• rhizomelic chondrodysplasia punctata

Database

• UniProt: http://www.uniprot.org/uniprot/O00628.html
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=5191
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:5191
• OMIM: https://mirror.omim.org/entry/215100
• OMIM: https://mirror.omim.org/entry/266500
• OMIM: https://mirror.omim.org/entry/601539
• OMIM: https://mirror.omim.org/entry/601757