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FLASH GENE
Symbol PRX contributors: mct - updated : 13-04-2016
HGNC name periaxin
HGNC id 13797
Corresponding disease
CMT4F Charcot-Marie-Tooth disease, demyelinating, type 4 F
Location 19q13.2      Physical location : 40.899.671 - 40.919.271
Synonym symbol(s) KIAA1620, CMT4F
DNA
TYPE functioning gene
STRUCTURE 19.60 kb     7 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Map cen - D19S421 - - D19S324 - PRX - D19S223 - qter
Authors Boerkel (01)
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
7 splicing 4884 - 1461 . coexpressed in Schwann cells 2015 26467811
  • PRX-L
  • S-periaxin may regulate the function of L-periaxin in Schwann cells
  • the two periaxin isoforms interacted in the cytoplasm through the PDZ domain, and their interaction prevented the homodimerization of L-periaxin
  • 7 splicing 5533 - 147 peripheral nervous tissue 2015 26467811
  • PRX-S
  • retention of intron 6 truncated protein
  • the two periaxin isoforms interacted in the cytoplasm through the PDZ domain, and their interaction prevented the homodimerization of L-periaxin
  • EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunethymus    
    Nervousnerve     Homo sapiens
     spinal cord    
    Visualeyelens    Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervousperipherous  highly Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    NervousSchwann cell Homo sapiens
    Visuallens fibers Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text brain
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N terminal PDZ domain (90AA protein binding motifs)
  • three highly basic nuclear localization signals (NLS)
  • a repeat domain
  • one acidic region near the C terminus
  • mono polymer homomer , dimer
    HOMOLOGY
    interspecies homolog to murine Prx
    Homologene
    FAMILY periaxin family
    CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    text redistributing to plasma membrane
    basic FUNCTION
  • stabilization of Schwann cell axons
  • may be required for maintenance of peripheral nerve myelin sheath
  • may have a role in axon-glial interactions, possibly by interacting with the cytoplasmic domains of integral membrane proteins such as myelin-associated glycoprotein in the periaxonal regions of the Schwann cell plasma membrane
  • may have a role in the early phases of myelin deposition
  • PDZ domain protein involved in myelin sheath stabilization, and is also a component of adhaerens plaques in lens fiber cells
  • key role in maturation, packing, and membrane organization of lens fiber cells
  • DRP2 and periaxin form Cajal bands with dystroglycan but have distinct roles in Schwann cell growth
  • abundant protein in the peripheral nervous system, with an important role in myelination
  • plays a key role in membrane scaffolding and cytoarchitecture (pMID: 26538089)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    text nervous system
    PATHWAY
    metabolism
    signaling
    a component
  • tight homodimerization may be central to the scaffolding functions of PRX and AHNAK2 in molecular complexes linking the extracellular matrix to the cytoskeletal network
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • PRX-DRP2 interaction is also required for DRP2 phosphorylation, but phosphorylation is not required for the assembly of appositions
  • DRP2 interacts with PRX and dystroglycan to form the PRX-DRP2-dystroglycan complex which plays a role in the maintenance of the well-characterized Cajal bands of myelinating Schwann cells
  • ANK2 is required for membrane association of PRX in lens fibers and colocalizes with PRX in hexagonal fiber cells
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CMT4F
    related resource Mutation Database of Inherited Peripheral Neuropathies
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
  • in mice lacking functional Periaxin (Prx) genes, a model of a recessive type of CMT disease known as CMT4F, neuromuscular junctions (NMJs) develop profound morphological changes in the preterminal region of motor axons
  • ANIMAL & CELL MODELS
    Prx-/- with peripheral demyelination and neuropathic pain behavior