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Description for Protein PMP22

peripheral myelin protein 22
3 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/1)
(platelet: 1)
Summary:
This gene encodes an integral membrane protein that is a major component of myelin in the peripheral nervous system. Various mutations of this gene are causes of Charcot-Marie-Tooth disease Type IA, Dejerine-Sottas syndrome, and hereditary neuropathy with liability to pressure palsies. Alternative splicing of this gene results in three transcript variants that encode the same protein. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    None Available
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Growth arrest specific 3; GAS3; HNPP; DSS; CMT1A; CMT1E; GAS-3; Sp110; MGC20769
    Approved Symbol:
    PMP22
    (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:

  • Charcot-Marie-tooth disease and deafness(Pd);
  • Charcot-Marie-tooth disease, type 1A(Pd);
  • Charcot-Marie-tooth disease, type 1A, autosomal recessive(Pd);
  • Charcot-Marie-tooth disease, type 1A, with focally folded myelin sheaths(Pd);
  • Dejerine-Sottas syndrome, autosomal dominant(Pd);
  • Dejerine-Sottas syndrome, autosomal recessive(Pd);
  • Neuropathy, hereditary, with liability to pressure palsies(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 3 : 4
  • Isoform 2 : 4
  • Isoform 1 : 4
    • Additional Identifiers:

    HPRD: 03059 Entrez Gene ID: 5376 OMIM ID: 601097 Swissprot Accession: Q6FH25; Q01453;