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FLASH GENE
Symbol PRX contributors: mct - updated : 13-04-2016
HGNC name periaxin
HGNC id 13797
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