Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



PRX Gene

protein-coding   GIFtS: 54
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

TryGeneCards Plus

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

TryGeneCards Plus

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 disease, autosomal recessive. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000019.10  NT_011109.17  NC_018930.2  
Regulatory elements:
   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 Chromatin IP Primers for PRX

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

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
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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PRX Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000291825   ENSP00000326018  

    PRX Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for PRX
    OriGene Protein Over-expression Lysate for PRX
    OriGene MassSpec for PRX
    OriGene Custom Protein Services for PRX
    GenScript Custom Purified and Recombinant Proteins Services for PRX
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PRX

    PRX Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for PRX
    Novus Biologicals PRX Antibody
    Search for Antibodies for PRX at Abcam
    Cloud-Clone Corp. Antibodies for PRX
    Search ThermoFisher Antibodies for PRX
    Search LSBio for Antibodies for PRX

    PRX Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for PRX
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for PRX
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for PRX
    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

    TryGeneCards Plus
    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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    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:    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 2 alleles(MGI details for Prx):
     behavior/neurological  growth/size/body  integument  nervous system  respiratory system 

    PRX for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Prxtm1Brp for PRX

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PRX
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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
    Products:
        
    miRTarBase miRNAs that target PRX:
    hsa-mir-132-3p (MIRT021812)

    Block miRNA regulation of human, mouse, rat PRX using miScript Target Protectors
    Selected qRT-PCR 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
    Products:
        
    OriGene RNAi products in human, mouse, rat for PRX
    Predesigned siRNA for gene silencing in human, mouse, rat PRX

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for PRX

    Clone
    Products:
         
    OriGene clones in human, mouse for PRX (see all 15)
    OriGene ORF clones in mouse, rat for PRX
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): PRX (NM_181882)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PRX
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PRX

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for PRX
    Browse ESI BIO Cell Lines and PureStem Progenitors for PRX 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PRX


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    PRAX_HUMAN, Q9BXM0: Nucleus (By similarity)
    PRAX_HUMAN, Q9BXM0: Isoform 1: Cell membrane (By similarity). Note=Associated with plasma membrane during
    myelination (By similarity)
    PRAX_HUMAN, Q9BXM0: Isoform 2: Cytoplasm (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    nucleus2
    plasma membrane2
    cytoskeleton1
    golgi apparatus1

    Gene Ontology (GO): 4 cellular component terms:    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


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PRX
    Interactions:

        Search GeneGlobe Interaction Network for PRX

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    Selected Interacting proteins for PRX (Q9BXM01, 3 ENSP000003260184) via UniProtKB, MINT, STRING, and/or I2D (see all 16)
    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:    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, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for 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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
    About This Section

    TryGeneCards Plus

    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:
         
    Block miRNA regulation of human, mouse, rat PRX using miScript Target Protectors
    Selected qRT-PCR 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
    Products:
         
    OriGene RNAi products in human, mouse, rat for PRX
    Predesigned siRNA for gene silencing in human, mouse, rat PRX
    Clone
    Products:
         
    OriGene clones in human, mouse for PRX (see all 15)
    OriGene ORF clones in mouse, rat for PRX
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): PRX (NM_181882)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PRX
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PRX
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for PRX
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PRX
      QuantiTect SYBR Green Assays in human, mouse, rat PRX
      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 

    Selected AceView cDNA sequences (see all 51):

    AI637869 BM670954 BC067266 NM_181882 CD245580 NM_020956 BM684494 BQ889216 
    AB046840 CD674402 BX112522 AF321192 CA391648 AF321191 BU146638 CD515755 
    CD516916 BG983613 BV183842 CD514342 BE504988 CD172301 BQ719712 AJ346219 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    PRX expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 3) 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
     
     Kidney (Urinary System)
    PRX Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PRX Protein Expression

    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

        Custom PCR Arrays for PRX
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for PRX
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PRX
    QuantiTect SYBR Green Assays in human, mouse, rat PRX
    QuantiFast Probe-based Assays in human, mouse, rat PRX
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PRX

    (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

    TryGeneCards Plus

    This gene was present in the common ancestor of chordates.

    Orthologs for PRX gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Prx1 , 5 periaxin1, 5 81.14(n)1
    81.5(a)1
      7 (15.91 cM)5
    191531  NM_198048.21  NP_932165.21 
     274993245 
    lizard
    (Anolis carolinensis)
    Reptilia PRX6
    periaxin
    35(a)
    1 ↔ 1
    LGf(2172574-2203549)
    zebrafish
    (Danio rerio)
    Actinopterygii ahnak6
    AHNAK nucleoprotein
    5(a)
    1 → many
    14(27768430-27805552) ENSDARG00000061764


    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

    TryGeneCards Plus
    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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for PRX (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--------
    rs2006737901,2
    C--40905812(+) TTTCT-/TTT   
      TCTTTC
    TTTCT
    2 -- int10--------
    rs593158191,2
    C--40905813(+) TCTTT-/CT/CTTTCTTT/CTTTCTT
    TCTTT
    /CTTTCTTTCTTTCTTT
    TTCTT
    4 -- int1 cds11NA 2
    rs735596201,2
    C,F--40906337(+) TCTACC/TAAAAA 2 -- int12Minor allele frequency- T:0.25WA 4
    rs1403626951,2
    --40906532(+) ACAAGA/CTCTCA 2 -- int10--------

    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

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PRX
    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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 605725   
    OMIM disorders: 145900  614895  
    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

  • 19 diseases for PRX:    
    About MalaCards
    charcot-marie-tooth disease, type 4f    dejerine-sottas disease, autosomal recessive    charcot-marie-tooth neuropathy type 4f    amyotrophic neuralgia
    charcot-marie-tooth disease type 4    charcot-marie-tooth hereditary neuropathy    charcot-marie-tooth neuropathy type 4    charcot-marie-tooth disease type 3
    hereditary neuropathies    neuropathy    axonal neuropathy    tooth disease
    charcot-marie-tooth disease    polyneuropathy    was-related disorders    laryngitis
    myopathy    multiple myeloma    myeloma

    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

    TryGeneCards Plus

    PubMed articles for PRX gene, integrated from 10 sources (see all 53):
    (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. (Am. J. Hum. Genet. 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. (Hum. Mol. Genet. 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. (Ann. Neurol. 2002)
    4. Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation. (PubMed id 22847150)1, 2 Tokunaga S.... Takashima H. (Neurogenetics 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. (Genome Res. 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. (DNA Res. 2000)
    7. Peripheral demyelination and neuropathic pain behavior in periaxin-deficient mice. (PubMed id 10839370)1, 3 Gillespie C.S....Brophy P.J. (Neuron 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. (Genomics 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. (Neuropediatrics 2008)
    10. Periaxin mutation in Japanese patients with Charcot-Marie-Tooth disease. (PubMed id 16770524)1, 9 Otagiri T....Hayasaka K. (J. Hum. Genet. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     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

    TryGeneCards Plus
    Entrez Gene: 57716 HGNC: 13797 AceView: PRX Ensembl:ENSG00000105227 euGenes: HUgn57716
    ECgene: PRX H-InvDB: PRX

    (According to HUGE)
    About This Section

    TryGeneCards Plus
    HUGE: KIAA1620

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    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/books/NBK1116/?term=PRX[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for PRX  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for PRX  
     OriGene MassSpec something-or-other for PRX   OriGene clones in human, mouse for PRX  
     OriGene qSTAR qPCR primer pairs in human, mouse for PRX   OriGene Purified Protein for PRX  
     OriGene ORF clones in mouse, rat for PRX   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for PRX   OriGene Custom Protein Services for PRX  

     
     
     Block miRNA regulation of human, mouse, rat PRX using miScript Target Protectors SeqTarget long-range PCR primers for resequencing PRX
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PRX Predesigned siRNA for gene silencing in human, mouse, rat PRX
     QuantiFast Probe-based Assays in human, mouse, rat PRX QuantiTect SYBR Green Assays in human, mouse, rat PRX
     Custom PCR Arrays for PRX Search Chromatin IP Primers for PRX
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PRX  Search GeneGlobe Interaction Network for PRX
     Regulatory tfbs in PRX promoter
     GenScript Custom Purified and Recombinant Proteins Services for PRX GenScript cDNA clones with any tag delivered in your preferred vector for PRX
     GenScript Custom Assay Services for PRX GenScript Custom overexpressing Cell Line Services for PRX
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for PRX (PRAX)
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     PRX antibodies
     Search for Antibodies for PRX at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for PRX
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for PRX
     Antibodies for PRX
     ELISAs for PRX
     CLIAs for PRX



     Browse ESI BIO Cell Lines and PureStem Progenitors for PRX
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PRX
     Browse SwitchGear 3'UTR luciferase reporter plasmids for PRX
     SwitchGear Promoter luciferase reporter plasmids for PRX
     Search ThermoFisher Antibodies for PRX
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PRX
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PRX
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PRX
     Search LSBio for Antibodies for PRX
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      PRX gene at Home site.
    Version: 3.12.164 25 Aug 2014
    hostname: 356977-web1.xennexinc.com index build: 126 solr: 1.4