Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol PMP22 contributors: shn - updated : 27-10-2016
HGNC name peripheral myelin protein 22
HGNC id 9118
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)
    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
  • TEAD1 is a novel regulator of PMP22 expression during development in concert with SOX10 and EGR2
    • 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 (