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Description for Protein PEX7

peroxisomal biogenesis factor 7
4 total interacting proteins;
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
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] (PubMed Links)
Domains and Motifs:
  • WD40: WD40 repeats
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K13341
    KEGG - Pathway(s):
    hsa04146
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Peroxisomal PTS2 receptor; Peroxisome biogenesis factor 7; Peroxisomal targeting signal 2 receptor; HsPEX7; PTS2 receptor
    Approved Symbol:
    PEX7
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 0
    No human (de-) phosphorylation sites; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Refsum disease(Pd);
  • Rhizomelic chondrodysplasia punctata, type 1(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 03454 Entrez Gene ID: 5191 OMIM ID: 601757 Swissprot Accession: O00628; Q6FGN1;