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Description for Protein PEX10

peroxisomal biogenesis factor 10
6 total interacting proteins;
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes a protein involved in import of peroxisomal matrix proteins. This protein localizes to the peroxisomal membrane. Mutations in this gene result in phenotypes within the Zellweger spectrum of peroxisomal biogenesis disorders, ranging from neonatal adrenoleukodystrophy to Zellweger syndrome. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • TM: Transmembrane domain
  • RING: Ring finger
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K13346
    KEGG - Pathway(s):
    hsa04146
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Peroxisome biogenesis factor 10; Peroxisome biogenesis factor 10 isoform 1; Peroxisome biogenesis factor 10 isoform 2; NALD; RNF69; MGC1998
    Approved Symbol:
    PEX10
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 1
    Human (de-) phosphorylation sites: 1; 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:

  • Neonatal adrenoleukodystrophy(Pd);
  • Zellweger syndrome, complementation group 7(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 1
  • Isoform 1 : 1
    • Additional Identifiers:

    HPRD: 04175 Entrez Gene ID: 5192 OMIM ID: 602859 Swissprot Accession: O60683;