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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
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)
Physical map
LOC390931 19 similar to placental protein 13-like protein LOC148003 19q13.2 similar to placental protein 13; galectin-13 LOC390932 19 similar to Eosinophil lysophospholipase (Charcot-Leyden crystal protein homolog) (Lysolecithin acylhydrolase) (CLC) (Galectin-10) PPL13 19q13.2 placental protein 13-like protein CLC 19q13.1 Charot-Leyden crystal protein LOC342900 19q13.2 hypothetical LOC342900 DYRK1B 19q12-q13.11 dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B FBL 19q13.1 fibrillarin FCGBP 19q13.1 Fc fragment of IgG binding protein LOC388540 19 hypothetical gene supported by BX640962; NM_018457 PSMC4 19q13.11-q13.13 proteasome (prosome, macropain) 26S subunit, ATPase, 4 MGC43537 19q13.2 hypothetical protein MGC43537 LOC390933 19 similar to hypothetical protein FLJ36874 LOC163131 19q13.2 similar to BC331191_1 LOC284323 19q13.2 hypothetical protein LOC284323 MAP3K10 19q13.2 mitogen-activated protein kinase kinase kinase 10 FLJ30373 19q13.2 hypothetical protein FLJ30373 FLJ13265 19q13.2 hypothetical protein FLJ13265 AKT2 19q13.2 v-akt murine thymoma viral oncogene homolog 2 FLJ36888 19q13.2 hypothetical protein FLJ36888 PLD3 19q13.2 phospholipase D3 FLJ32818 PRX 19q13.13-13.2 periaxin SEI1 19q13.1-q13.2 periaxin RBT1 19q13.1-q13.2 periaxin BLVRB 19q13.13-q13.2 biliverdin reductase B (flavin reductase (NADPH)) SPTBN4 19q13.13 spectrin, beta, non-erythrocytic 4 LOC92799 19q13.2 hypothetical protein BC007653 LTBP4 19q13.1-q13.2 latent transforming growth factor beta binding protein 4 NUMBL 19q13-q13.2 numb homolog (Drosophila)-like ADCK4 19q13.2 aarF domain containing kinase 4 ITPKC 19q13.1 inositol 1,4,5-trisphosphate 3-kinase C FLJ41131 19q13.2 FLJ41131 protein SNRPA 19q13.2 small nuclear ribonucleoprotein polypeptide A MIA 19q13.32-q13.33 melanoma inhibitory activity RAB4B 19q13.2 RAB4B, member RAS oncogene family EGLN2 19q13.2 egl nine homolog 2 (C. elegans) CYP2T2P 19q13.2 cytochrome P450, family 2, subfamily T, polypeptide 2 pseudogene CYP2F1P 19q13.2 cytochrome P450, family 2, subfamily F, polypeptide 1 pseudogene CYP2A6 19q13.2 cytochrome P450, family 2, subfamily A, polypeptide 6 CYP2A7 19q13.2 cytochrome P450, family 2, subfamily A, polypeptide 7 CYP2G1 19q13.2 cytochrome P450, family 2, subfamily G, polypeptide 1 pseudogene CYP2A7P1 19q13.2 cytochrome P450, family 2, subfamily A, polypeptide 7 pseudogene 1 CYP2B7 19q13.2 cytochrome P450, family 2, subfamily B, polypeptide 7 pseudogene CYP2B6 19q13.2 cytochrome P450, family 2, subfamily B, polypeptide 6
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
    Type restricted
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousnerve     Homo sapiens
     spinal cord    
    Visualeyelens    Homo sapiens
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervousperipherous  highly Homo sapiens
    SystemCellPubmedSpeciesStageRna symbol
    NervousSchwann cell Homo sapiens
    Visuallens fibers Homo sapiens
    cell lineage
    cell lines
    at STAGE
    physiological period fetal
    Text brain
  • 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
    interspecies homolog to murine Prx
    FAMILY periaxin family
    CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane
    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)
    text nervous system
    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
    small molecule
  • 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
    corresponding disease(s) CMT4F
    related resource Mutation Database of Inherited Peripheral Neuropathies
    Variant & Polymorphism
    Candidate gene
    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
    Prx-/- with peripheral demyelination and neuropathic pain behavior