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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PRX Gene

protein-coding   GIFtS: 53
GCID: GC19M040899

Periaxin

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
periaxin1 2
CMT4F2 5
KIAA16203

External Ids:    HGNC: 137971   Entrez Gene: 577162   Ensembl: ENSG000001052277   OMIM: 6057255   UniProtKB: Q9BXM03   

Export aliases for PRX gene to outside databases

Previous GC identifers: GC19M041539 GC19M041291 GC19M045575 GC19M045591 GC19M037335


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PRX Gene:
This gene encodes a protein involved in peripheral nerve myelin upkeep. The encoded protein contains 2 PDZ domains
which were named after PSD95 (post synaptic density protein), DlgA (Drosophila disc large tumor suppressor), and
ZO1 (a mammalian tight junction protein). Two alternatively spliced transcript variants have been described for
this gene which encode different protein isoforms and which are targeted differently in the Schwann cell.
Mutations in this gene cause Charcot-Marie-Tooth neuoropathy, type 4F and Dejerine-Sottas neuropathy. (provided
by RefSeq, Jul 2008)

GeneCards Summary for PRX Gene: 
PRX (periaxin) is a protein-coding gene. Diseases associated with PRX include charcot-marie-tooth disease, type 4f, and dejerine-sottas neuropathy, autosomal recessive. GO annotations related to this gene include protein binding and molecular_function. An important paralog of this gene is AHNAK2.

UniProtKB/Swiss-Prot: PRAX_HUMAN, Q9BXM0
Function: Seems to 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

Gene Wiki entry for PRX Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NT_011109.16  NC_018930.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PRX gene promoter:
         COUP-TF   p53   COUP   HNF-4alpha1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPRX promoter sequence
   Search SABiosciences Chromatin IP Primers for PRX

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PRX


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13.2   Ensembl cytogenetic band:  19q13.2   HGNC cytogenetic band: 19q13.2

PRX Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PRX gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M040899:  view genomic region     (about GC identifiers)

Start:
40,899,671 bp from pter      End:
40,919,273 bp from pter
Size:
19,603 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: PRAX_HUMAN, Q9BXM0 (See protein sequence)
Recommended Name: Periaxin  
Size: 1461 amino acids; 154905 Da
Subunit: Interacts with SCN10A. Found in a complex with SCN10A
Subcellular location: Nucleus (By similarity)
Subcellular location: Isoform 1: Cell membrane (By similarity). Note=Associated with plasma membrane during
myelination (By similarity)
Subcellular location: Isoform 2: Cytoplasm (By similarity)
Sequence caution: Sequence=BAB13446.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=BAB13446.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing;
Secondary accessions: Q9BXL9 Q9HCF2
Alternative splicing: 3 isoforms:  Q9BXM0-1   Q9BXM0-2   Q9BXM0-3   

Explore the universe of human proteins at neXtProt for PRX: NX_Q9BXM0

Explore proteomics data for PRX at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BXM0

  • PRX Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PRX Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_066007.1  NP_870998.2  

    ENSEMBL proteins: 
     ENSP00000291825   ENSP00000326018  

    Human Recombinant Protein Products for PRX: 
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    OriGene Protein Over-expression Lysate for PRX
    OriGene MassSpec for PRX 
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
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    Cloud-Clone Corp. Proteins for PRX 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IEA--
    GO:0005886plasma membrane IEA--

    PRX for ontologies           About GeneDecksing



    PRX Antibody Products: 
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    Assay Products for PRX: 
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    Cloud-Clone Corp. CLIAs for PRX


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR001478 PDZ

    Graphical View of Domain Structure for InterPro Entry Q9BXM0

    ProtoNet protein and cluster: Q9BXM0

    1 Blocks protein domain: IPB001478 PDZ/DHR/GLGF domain

    UniProtKB/Swiss-Prot: PRAX_HUMAN, Q9BXM0
    Domain: Has a remarkable domain of repetitive pentameric units sometimes followed by a tripeptide spacer, it may
    separate two functional basic and acidic domains
    Domain: The Arg/Lys-rich basic domain functions as a tripartite nuclear localization signal
    Similarity: Belongs to the periaxin family
    Similarity: Contains 1 PDZ (DHR) domain


    PRX for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PRAX_HUMAN, Q9BXM0
    Function: Seems to 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

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0005515protein binding IPI17474147
         
    PRX for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for PRX:
     Increased G1 DNA content 

         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Prx):
     behavior/neurological  growth/size  integument  nervous system  respiratory system 

    PRX for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Prxtm1Brp for PRX

       inGenious Targeting Laboratory - Custom generated mouse model solutions for PRX 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PRX

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PRX 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PRX 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PRX
    8/10 QIAGEN miScript miRNA Assays for microRNAs that regulate PRX (see all 10):
    hsa-miR-520f hsa-miR-449c* hsa-miR-4306 hsa-miR-3175 hsa-miR-512-3p hsa-miR-1911* hsa-miR-3150a-3p hsa-miR-214*
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Gene Editing
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    Clone
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                         Customized lentivirus expression plasmids for stable overexpression of PRX 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PRX


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PRX

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    5/13 Interacting proteins for PRX (Q9BXM01, 3 ENSP000003260184) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NCK1P163331, 3, ENSP000002889864EBI-1753064,EBI-389883 I2D: score=1 STRING: ENSP00000288986
    DRP2Q134743, ENSP000003786354I2D: score=2 STRING: ENSP00000378635
    ABL1P005193, ENSP000003614234I2D: score=1 STRING: ENSP00000361423
    CRKP461083, ENSP000003005744I2D: score=1 STRING: ENSP00000300574
    EZRP153113, ENSP000003389344I2D: score=1 STRING: ENSP00000338934
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008219cell death IEA--
    GO:0008366axon ensheathment NAS11133365

    PRX for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PRX (PRAX)

    Search CenterWatch for drugs/clinical trials and news about PRX / PRAX

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for PRX gene (2 alternative transcripts): 
    NM_020956.2  NM_181882.2  

    Unigene Cluster for PRX:

    Periaxin
    Hs.205457  [show with all ESTs]
    Unigene Representative Sequence: NM_020956
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000291825(uc002ons.3) ENST00000324001(uc002onq.3 uc002onr.3)
    ENST00000599513
    miRNA
    Products:
         
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    8/10 QIAGEN miScript miRNA Assays for microRNAs that regulate PRX (see all 10):
    hsa-miR-520f hsa-miR-449c* hsa-miR-4306 hsa-miR-3175 hsa-miR-512-3p hsa-miR-1911* hsa-miR-3150a-3p hsa-miR-214*
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for PRX
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    Clone
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    OriGene clones in human, mouse for PRX (see all 13)
    OriGene ORF clones in mouse, rat for PRX
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PRX
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    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for PRX
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PRX
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PRX

    Additional mRNA sequence: 

    AF321191.1 AF321192.1 BC067266.1 

    3 DOTS entries:

    DT.65284940  DT.100772459  DT.95261160 

    24/51 AceView cDNA sequences (see all 51):

    NM_181882 BM670954 AB046840 BX112522 CD674402 AF321191 BM684494 AF321192 
    BQ889216 CD245580 BC067266 AI637869 NM_020956 CA391648 BU146638 BG983613 
    CD518287 CD516916 BV183842 BE504988 CD673783 BQ881412 BU150073 CD514342 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for PRX    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b
    SP1:                          -     -                           
    SP2:                          -     -                           
    SP3:                                                            
    SP4:                                                            


    ECgene alternative splicing isoforms for PRX

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PRX expression in normal human tissues (normalized intensities)      PRX embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGAATAAAAT
    PRX Expression
    About this image


    PRX expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/6 selected tissues (see all 6) fully expand
     
     Peripheral Nervous System (Nervous System)    fully expand to see all 5 entries
             Pro-myelinating Schwann Cells Peripheral Nerve Domain
             dorsal root ganglia   
     
     Heart (Cardiovascular System)
             Atrioventricular Node
     
     Gut Tube (Gastrointestinal Tract)
             Definitive endoderm-like cells ( A scalable, suspension protocol for derivation of...
     
     Spinal Cord (Nervous System)
             Dorsal Root Ganglion   
     
     Brain (Nervous System)
             Trigeminal Ganglion   

    See PRX Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PRX

    SOURCE GeneReport for Unigene cluster: Hs.205457

    UniProtKB/Swiss-Prot: PRAX_HUMAN, Q9BXM0
    Tissue specificity: Isoform 1 and isoform 2 are found in sciatic nerve and Schwann cells

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for PRX gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Prx1 , 5 periaxin1, 5 81.47(n)1
    82(a)1
      7 (15.91 cM)5
    191531  NM_198048.21  NP_932165.21 
     274993245 
    chicken
    (Gallus gallus)
    Aves --
    --
    --
    9(a)
    6(a)
    possible ortholog
    possible ortholog
    JH375735.1(21-10051)
    5(51711521-51736637)
    lizard
    (Anolis carolinensis)
    Reptilia PRX6
    Uncharacterized protein
    31(a)
    1 ↔ 1
    LGf(2172574-2203549)
    zebrafish
    (Danio rerio)
    Actinopterygii BX511245.16
    BX004880.16
    (see all 4)
    Uncharacterized protein
    (see all 4)
    5(a)
    5(a)
    (see all 4)
    possible ortholog
    possible ortholog
    (see all 4)
    17(22374665-22382707)
    11(12029069-12035805)


    ENSEMBL Gene Tree for PRX (if available)
    TreeFam Gene Tree for PRX (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PRX gene
    AHNAK22  AHNAK2  

    PRX for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/617 SNPs in PRX are shown (see all 617)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs38142901,2,4
    CCharcot-Marie-Tooth disease 4F (CMT4F)4 pathogenic141092181(-) TGCCCA/GATGTG 3 N D mis1 ut31 ese30--------
    rs1048947081,2
    Cpathogenic141090924(-) TGGCTC/TGAGGG 3 R * stg1 ut310--------
    rs1048947141,2
    Cpathogenic141091275(-) CTGGGC/TGAGCT 3 R * stg1 ut310--------
    rs1048947071,2
    Cpathogenic141091987(-) GTCTGA/TGAAAT 3 * C stg1 ut310--------
    rs1048947151,2
    Cpathogenic141093030(-) GGGCTC/TGAGCA 3 R * stg1 ut310--------
    rs1048947061,2
    Cpathogenic141093546(-) GTGTAC/TGAGAA 3 R * stg1 ut310--------
    VAR_0130654
    ----see VAR_0130652 R C mis40--------
    VAR_0130604
    ----see VAR_0130602 K E mis40--------
    VAR_0130574
    ----see VAR_0130572 E Q mis40--------
    VAR_0130634
    ----see VAR_0130632 E K mis40--------

    HapMap Linkage Disequilibrium report for PRX (40899671 - 40919273 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for PRX:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2718564CNV Deletion23290073
    dgv3867n71CNV Loss21882294
    nsv833831CNV Loss17160897


    Human Gene Mutation Database (HGMD): PRX

    Locus Specific Mutation Databases (LSDB): PRX
    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for PRX

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 605725   
    OMIM disorders: 145900  
    UniProtKB/Swiss-Prot: PRAX_HUMAN, Q9BXM0
  • Dejerine-Sottas syndrome (DSS) [MIM:145900]: A severe degenerating neuropathy of the demyelinating
    Charcot-Marie-Tooth disease category, with onset by age 2 years. Characterized by motor and sensory neuropathy
    with very slow nerve conduction velocities, increased cerebrospinal fluid protein concentrations, hypertrophic
    nerve changes, delayed age of walking as well as areflexia. There are both autosomal dominant and autosomal
    recessive forms of Dejerine-Sottas syndrome. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Charcot-Marie-Tooth disease 4F (CMT4F) [MIM:614895]: A recessive demyelinating form of
    Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness
    and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth
    disease is classified in two main groups on the basis of electrophysiologic properties and histopathology:
    primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary
    peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve
    conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations
    on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow
    feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4.
    CMT4F is characterized by distal sensory impairment and distal muscle weakness and atrophy affecting the lower
    more than the upper limbs. The age at onset is variable and can range from childhood to adult years. When the
    onset is in infancy, the phenotype is characterized as Dejerine-Sottas syndrome. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 16 diseases for PRX:    About MalaCards
    charcot-marie-tooth disease, type 4f    dejerine-sottas neuropathy, autosomal recessive    charcot-marie-tooth neuropathy type 4f    amyotrophic neuralgia
    charcot-marie-tooth disease type 4    charcot-marie-tooth neuropathy type 4    hereditary neuropathies    neuropathy
    charcot-marie-tooth neuropathy    charcot-marie-tooth disease    tooth disease    polyneuropathy
    was-related disorders    axonal neuropathy    myopathy    laryngitis

    2 diseases from the University of Copenhagen DISEASES database for PRX:
    Neuropathy     Myopathy

    PRX for disorders           About GeneDecksing

    5 Novoseek inferred disease relationships for PRX gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dejerine-sottas disease 94.1 11 11133365 (2), 11157804 (2), 16534116 (1), 15197604 (1) (see all 7)
    charcot-marie-tooth disease 91.1 15 16534116 (2), 16770524 (2), 15197604 (2), 18410371 (1) (see all 9)
    hereditary neuropathy 72.8 1 19321787 (1)
    sensory neuropathy 69.6 1 16106622 (1)
    polyneuropathy 35.5 1 16106622 (1)

    GeneTests: PRX
    GeneReviews: PRX
    Genetic Association Database (GAD): PRX
    Human Genome Epidemiology (HuGE) Navigator: PRX (7 documents)

    Export disorders for PRX gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for PRX gene, integrated from 9 sources (see all 52):
    (articles sorted by number of sources associating them with PRX)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Periaxin mutations cause recessive Dejerine-Sottas neuropathy. (PubMed id 11133365)1, 2, 9 Boerkoel C.F.... Lupski J.R. (2001)
    2. A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease. (PubMed id 11157804)1, 2, 9 Guilbot A....Claustres M. (2001)
    3. Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. (PubMed id 11835375)1, 4, 9 Boerkoel C.F.... Lupski J.R. (2002)
    4. Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation. (PubMed id 22847150)1, 2 Tokunaga S.... Takashima H. (2012)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    6. Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10997877)1, 2 Nagase T.... Ohara O. (2000)
    7. Peripheral demyelination and neuropathic pain behavior in periaxin-deficient mice. (PubMed id 10839370)1, 3 Gillespie C.S....Brophy P.J. (2000)
    8. The gene encoding the Schwann cell protein periaxin localizes on mouse chromosome 7 (Prx). (PubMed id 9143514)1, 3 Gillespie C.S....Brophy P.J. (1997)
    9. Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome. (PubMed id 18504680)1, 9 Auer-Grumbach M....Janecke A.R. (2008)
    10. Periaxin mutation in Japanese patients with Charcot-Marie-Tooth disease. (PubMed id 16770524)1, 9 Otagiri T....Hayasaka K. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 57716 HGNC: 13797 AceView: PRX Ensembl:ENSG00000105227 euGenes: HUgn57716
    ECgene: PRX H-InvDB: PRX

    (According to HUGE)
    About This Section
    HUGE: KIAA1620

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PRX Pharmacogenomics, SNPs, Pathways
    Inherited peripheral neuropathies mutation dbhttp://www.molgen.ua.ac.be/CMTMutations/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PRX

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PRX gene:
    Search GeneIP for patents involving PRX

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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