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Description for Protein PEX16

peroxisomal biogenesis factor 16
1 total interacting proteins;
Icon Book Platelet Evidence (proteome studies/others : 1/0)
(membrane: 1)
Summary:
The protein encoded by this gene is an integral peroxisomal membrane protein. An inactivating nonsense mutation localized to this gene was observed in a patient with Zellweger syndrome of the complementation group CGD/CG9. Expression of this gene product morphologically and biochemically restores the formation of new peroxisomes, suggesting a role in peroxisome organization and biogenesis. Alternative splicing has been observed for this gene and two variants have been described. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K13335
    KEGG - Pathway(s):
    hsa04146
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Peroxisomal membrane protein PEX16; Peroxisome biogenesis factor 16; Peroxisome biogenesis disorder, complementation group 9; Peroxisome biogenesis disorder, complementation group D; Peroxisomal biogenesis factor 16 isoform 2; Peroxisomal biogenesis factor 16 isoform 1
    Approved Symbol:
    PEX16
    (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:

  • Zellweger syndrome, complementation group D(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 04526 Entrez Gene ID: 9409 OMIM ID: 603360 Swissprot Accession: Q9Y5Y5;