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Merck

PEX7

peroxisomal biogenesis factor 7

Synonyms:
PBD9B, PTS2R, RCDP1, RD
Species:
Human PEX7 (5191), Mouse Pex7 (18634), Rat Pex7 (308718), domestic guinea pig Pex7 (100721518), sheep PEX7 (101121271), naked mole-rat Pex7 (101710222), dog PEX7 (484000), chicken PEX7 (421687), domestic cat PEX7 (101086311), cow PEX7 (533077) ...More
UniProtKB ID:
O00628
Gene ID:
  • Human(5191) Summary: This gene encodes the cytosolic receptor for the set of peroxisomal matrix enzymes targeted to the organelle by the peroxisome targeting signal 2 (PTS2). Defects in this gene cause peroxisome biogenesis disorders (PBDs), which are characterized by multiple defects in peroxisome function. There are at least 14 complementation groups for PBDs, with more than one phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene have been associated with PBD complementation group 11 (PBD-CG11) disorders, rhizomelic chondrodysplasia punctata type 1 (RCDP1), and Refsum disease (RD). [provided by RefSeq, Oct 2008]
  • Mouse(18634) peroxisomal biogenesis factor 7
  • Rat(308718) peroxisomal biogenesis factor 7
  • domestic guinea pig(100721518) peroxisomal biogenesis factor 7
  • sheep(101121271) peroxisomal biogenesis factor 7
  • naked mole-rat(101710222) peroxisomal biogenesis factor 7
  • dog(484000) peroxisomal biogenesis factor 7
  • chicken(421687) peroxisomal biogenesis factor 7
  • domestic cat(101086311) peroxisomal biogenesis factor 7
  • cow(533077) peroxisomal biogenesis factor 7
  • Domestic Rabbit(100340758) peroxisomal biogenesis factor 7
  • Thale Cress(839800) peroxin 7
  • Zebrafish(541405) peroxisomal biogenesis factor 7
  • fruit fly(38994) Peroxin 7

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