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FLASH GENE
Symbol PMP22 contributors: shn - updated : 27-10-2011
HGNC name peripheral myelin protein 22
HGNC id 9118
Corresponding disease
AIDP acute inflammatory demyelinating polyneuropathy
CMT1A Charcot-Marie-Tooth disease, demyelinating, type 1A
CMT1E Charcot-Marie-Tooth disease, demyelinating, type 1E
DSS1 Dejerine-Sottas syndrome 1
HNPP neuropathy, hereditary liability to pressure palsies
RLAD Roussy-Levy hereditary areflexic dystasia
Location 17p12      Physical location : 15.133.096 - 15.168.644
Synonym name
  • growth arrest-specific 3
  • growth arrest-specific protein 3
  • Synonym symbol(s) GAS3, PMP-22, HNPP, SP110, CMT1A, CMT1E, GAS-3, HMSNIA, MGC20769
    DNA
    TYPE functioning gene
    STRUCTURE 35.55 kb     5 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site   silencer   transcription factor
    text structure
  • positive regulatory element in the myelin specific promoter
  • silencer element sensitive to a cAMP
  • transcription factor binding sites, including OREB
  • expressed from two alternate promoters, P1 transcribing exon 1A and P2 transcribing exon 1B, with the same protein produced with the translation start site in exon 2
  • a 11 kb enhancer is upregulated by two transcription factors: early growth response 2 (EGR2) and SOX10
  • MAPPING cloned Y linked N status confirmed
    Map pter - D17S955 - D17S839 - PMP22 - D17S1843 - D17S953 - cen
    Authors Murakami (97)
    Physical map
    LOC388337 17 similar to CDRT15 protein COX10 17p12-p11.2 COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast) LOC146822 17p12 similar to CDRT15 protein LOC388338 17 LOC388338 HS3ST3B1 17p12-p11.2 heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1 LOC388339 17 similar to ribosomal protein LOC390765 17 similar to 60S ribosomal protein L23a LOC388340 17 LOC388340 PMP22 17p12-p11.2 peripheral myelin protein 22 TEKT3 17p12 tektin 3 FLJ36674 17p11.2 hypothetical protein FLJ36674 LOC201158 17p11.2 similar to CGI-148 protein C17orf1A 17p11 chromosome 17 open reading frame 1A CDRT1 17p12 CMT1A duplicated region transcript 1 TRIM16 17p11.2 tripartite motif-containing 16 ZNF286 17p11.2 zinc finger protein 286 LOC246719 17p11.2 ubiquitin carrier protein E2-EPF pseudogene MGC51025 7p11.2 hypothetical protein MGC51025 LOC147151 17p11.2 hypothetical LOC147151 IL6STP 17p11.2 interleukin 6 signal transducer (gp130, oncostatin M receptor) pseudogene MEIS3 17p11.1 Meis1, myeloid ecotropic viral integration site 1 homolog 3 (mouse) ADORA2B 17p11.2 adenosine A2b receptor FLJ20343 17p11.2 hypothetical protein FLJ20343 NCOR1 17-p11.2 nuclear receptor co-repressor 1 PIGL 17p12-p11.2 phosphatidylinositol glycan, class L p30 17p11.2 nuclear protein p30 UBB 17p12-p11.1 ubiquitin B TRPV2 17p11.2 transient receptor potential cation channel, subfamily V, member 2 MGC40157 17p11.2 hypothetical protein MGC40157 LOC388341 17 similar to Hypothetical protein LOC192976 ZNF287 17p11.2 zinc finger protein 287
    regionally located flanked by the distal and proximal low copy repeats CMT1AREPT and CMT1AREPC
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 splicing 1828 - 160 - -
    5 splicing 1816 - 160 - -
    4 splicing 1669 - 160 - -
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestine    
     liver    
    Hearing/Equilibriumearinnercochlea highly
    Nervousnervecranial nerve  highly
    Respiratorylung    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentralwhite matter  
    Nervousperipherous    Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text cochlea
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • four transmembrane domains
  • conjugated GlycoP
    HOMOLOGY
    interspecies ortholog to Pmp22, Mus musculus
    ortholog to PMP22, Pan troglodytes
    ortholog to Pmp22, Rattus norvegicus
    intraspecies homolog to EMP2
    Homologene
    FAMILY PMP22/EMP/MP20 family
    CATEGORY signaling , receptor membrane
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • component of the compact myelin, involved in formation and maintenance of compacting myelin, possibly component of intercellular junctions in epithelial
  • transcriptional activity
  • involved in normal axonal cytoskeletal organization and in cell cell interactions
  • CELLULAR PROCESS cell organization/biogenesis
    PHYSIOLOGICAL PROCESS
    text cytoskeletal
    PATHWAY
    metabolism
    signaling neurotransmission , sensory transduction/hearing
    synaptic transmission
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • protein zero, P0
  • lectin chaperone calnexin, CNX )
  • potential interaction with CANX, and in the absence of CANX, it is possible that PMP22 folding and function are modified, leading to dysmyelination
  • cell & other
    REGULATION
    activated by Egr2 (
    Other Sox10 (
    coordinately regulated by multiple enhancers
    ASSOCIATED DISORDERS
    corresponding disease(s) CMT1A , HNPP , RLAD , CMT1E , AIDP , DSS1
    related resource Mutation Database of Inherited Peripheral Neuropathies
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • PMP22-transgenic rats, overexpressing pmp22 gene, develop gait abnormalities caused by a peripheral hypomyelination, Schwann cell hypertrophy (onion bulb formation), and muscle weakness (
  • PMP22 duplication in Schwann cells results in an impairment in the normal axonal cytoskeletal organization, resulting in distal axonal degeneration and fiber loss, and the affect of PMP22 deletion on axonal cytoskeleton is less deleterious (
  • PMP22, when overexpressed, accumulates in a late Golgi-cell membrane compartment and uncouples myelin assembly from the underlying program of Schwann cell differentiation (
  • Histological analysis of both mouse lines, harbouring H12R or Y153TER mutation, revealed hypo-myelination of peripheral nerves (