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

PEX3 Gene

protein-coding   GIFtS: 60
GCID: GC06P143772

peroxisomal biogenesis factor 3

 Explore 14 diseases affiliated with
PEX3 via our new
 Human Malady Compendium 
Biological research products
for PEX3
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Peroxisomal Biogenesis Factor 31 2     Peroxin-33
Peroxisomal Assembly Protein PEX32 3     Transformation-Related Protein 182
PBD10A2     Peroxin-33
TRG182     

External Ids:    HGNC: 88581   Entrez Gene: 85042   Ensembl: ENSG000000346937   OMIM: 6031645   UniProtKB: P565893   

Export aliases for PEX3 gene to outside databases

Previous GC identifers: GC06P143395 GC06P143619 GC06P143752 GC06P143813 GC06P141335


(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 PEX3:
The product of this gene is involved in peroxisome biosynthesis and integrity. It assembles membrane vesicles before
the matrix proteins are translocated. Peroxins (PEXs) are proteins that are essential for the assembly of functional
peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive,
lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a
heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases
falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all
PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle.
Defects in this gene are a cause Zellweger syndrome (ZWS). (provided by RefSeq, Oct 2008)

UniProtKB/Swiss-Prot: PEX3_HUMAN, P56589
Function: Involved in peroxisome biosynthesis and integrity. Assembles membrane vesicles before the matrix proteins are
translocated. As a docking factor for PEX19, is necessary for the import of peroxisomal membrane proteins in the
peroxisomes

Gene Wiki entry for PEX3


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.1  NT_025741.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PEX3 gene promoter:
         GR   Sox5   GR-beta   FOXO3   LCR-F1   GATA-1   FOXO3b   HFH-1   FOXO3a   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPEX3 promoter sequence
   Search SABiosciences Chromatin IP Primers for PEX3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PEX3


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

Entrez Gene cytogenetic band: 6q24.2   Ensembl cytogenetic band:  6q24.2   HGNC cytogenetic band: 6q24.2

PEX3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PEX3 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P143772:  view genomic region     (about GC identifiers)

Start:
143,771,918 bp from pter      End:
143,811,753 bp from pter
Size:
39,836 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: PEX3_HUMAN, P56589 (See protein sequence)
Recommended Name: Peroxisomal biogenesis factor 3  
Size: 373 amino acids; 42140 Da
Subunit: Interacts with PEX19
Subcellular location: Peroxisome membrane; Multi-pass membrane protein
2 PDB 3D structures from and Proteopedia for PEX3:
3AJB (3D)        3MK4 (3D)    
Secondary accessions: Q6FGP5

Explore the universe of human proteins at neXtProt for PEX3: NX_P56589

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P56589

  • PEX3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_003621.1  
    ENSEMBL proteins: 
     ENSP00000356564   ENSP00000356563  
    Reactome Protein details: P56589
    Human Recombinant Protein Products: 
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    Novus Biologicals PEX3 Proteins
    Novus Biologicals PEX3 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for PEX3

    Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005777peroxisome IMP12924628
    GO:0005778peroxisomal membrane TAS--
    GO:0005779integral to peroxisomal membrane IDA10430017


    PEX3 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    PEX3 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR006966 Peroxin-3

    Graphical View of Domain Structure for InterPro Entry P56589

    ProtoNet protein and cluster: P56589

    1 Blocks protein family: IPB006966 Peroxin-3

    UniProtKB/Swiss-Prot: PEX3_HUMAN, P56589
    Similarity: Belongs to the peroxin-3 family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: PEX3_HUMAN, P56589
    Function: Involved in peroxisome biosynthesis and integrity. Assembles membrane vesicles before the matrix proteins are
    translocated. As a docking factor for PEX19, is necessary for the import of peroxisomal membrane proteins in the
    peroxisomes

         Genatlas biochemistry entry for PEX3:
    peroxin 3,peroxisomal biogenesis factor 3

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PEX3
    8/39 QIAGEN miScript miRNA Assays for microRNAs that regulate PEX3 (see all 39):
    hsa-miR-548j hsa-miR-607 hsa-miR-25 hsa-miR-16-1* hsa-miR-30d hsa-miR-30a hsa-miR-3658 hsa-miR-548d-5p
    SwitchGear 3'UTR luciferase reporter plasmidPEX3 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PEX3 (see all 7)
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PEX3

    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI16280322
    GO:0008289lipid binding IDA19715730
    GO:0046983protein dimerization activity IDA19715730


    PEX3 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for PEX3:
     G0/1 arrest  Increased G1 DNA content 

    Animal Models:
         9 MGI mutant phenotypes (inferred from 1 allele(MGI details for Pex3):
     behavior/neurological  cardiovascular system  hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism 
     immune system  reproductive system  skeleton  vision/eye 

    PEX3 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1ABC-family proteins mediated transport
    ABC-family proteins mediated transport1.00
    ABCA transporters in lipid homeostasis0.47
    2Peroxisome
    Peroxisome1.00
    3SLC-mediated transmembrane transport
    Transmembrane transport of small molecules0.50

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    3        Reactome Pathways for PEX3
        ABC-family proteins mediated transport
    ABCA transporters in lipid homeostasis
    Transmembrane transport of small molecules


    1         Kegg Pathway  (Kegg details for PEX3):
        Peroxisome


    PEX3 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PEX3

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

    5/7 Interacting proteins for PEX3 (P565891, 2, 3 ENSP000003565634) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PEX19P408551, 2, 3, ENSP000003570514EBI-594885,EBI-981972 MINT-17306 MINT-17307 I2D: score=7 STRING: ENSP00000357051
    PEX16Q9Y5Y53, ENSP000002410414I2D: score=1 STRING: ENSP00000241041
    PEX26Q7Z4123, ENSP000003311064I2D: score=1 STRING: ENSP00000331106
    ARF6P623303I2D: score=1 
    CLN3Q132863I2D: score=1 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007031peroxisome organization IMP18174172
    GO:0016557peroxisome membrane biogenesis IEA--
    GO:0045046protein import into peroxisome membrane IMP15007061
    GO:0055085transmembrane transport TAS--


    PEX3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 PEX3
    Search CenterWatch for drugs/clinical trials and news about PEX3 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for PEX3 gene: 
    NM_003630.2  

    Unigene Clusters for PEX3:

    Peroxisomal biogenesis factor 3
    Hs.7277  [show with all ESTs], Hs.592832  [show with all ESTs]
    Unigene Representative Sequences: NM_003630, AK023593
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000367592 ENST00000367591(uc011edx.1 uc003qjl.3) ENST00000585848


    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PEX3
    8/39 QIAGEN miScript miRNA Assays for microRNAs that regulate PEX3 (see all 39):
    hsa-miR-548j hsa-miR-607 hsa-miR-25 hsa-miR-16-1* hsa-miR-30d hsa-miR-30a hsa-miR-3658 hsa-miR-548d-5p
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PEX3
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    Additional cDNA sequence: AK023593.1 

    6 DOTS entries:

    DT.100780842  DT.442523  DT.91841079  DT.96086351  DT.95372939  DT.91686944 

    24/140 AceView cDNA sequences (see all 140):

    BI826271 BQ215000 CA312993 CB161881 AA747440 AU137342 AW959982 BM927221 
    CA488806 AI215540 CN482988 BC015506 AI332675 AA305508 BX441390 BP368895 
    CB116371 CR615782 AK023593 CR542062 AL522735 BG618210 BM718377 CR621449 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for PEX3    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11 ^ 12
    SP1:                                      -                                   -                                 
    SP2:                                      -                                                                     
    SP3:                          -           -                                                                     
    SP4:                                                                                                            


    ECgene alternative splicing isoforms for PEX3

    (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

    PEX3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ACTTGTTCCC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See PEX3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PEX3

    SOURCE GeneReport for Unigene clusters: Hs.7277 Hs.592832

    UniProtKB/Swiss-Prot: PEX3_HUMAN, P56589
    Tissue specificity: Found in all examined tissues

        SABiosciences Custom PCR Arrays for PEX3
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PEX3

    (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 eukaryotes.

    Orthologs for PEX3 gene from 10/29 species (see all 29)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pex31 , 5 peroxisomal biogenesis factor 31, 5 88.89(n)1
    94.09(a)1
      10 (4.89 cM)5
    565351  NM_019961.31  NP_064345.11 
     135238475 
    chicken
    (Gallus gallus)
    Aves PEX31 peroxisomal biogenesis factor 3 79.77(n)
    85.91(a)
      421669  XM_419708.3  XP_419708.1 
    lizard
    (Anolis carolinensis)
    Reptilia PEX36
    --
    82(a)
    1 ↔ 1
    1(203878591-203896831)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.113352 Xenopus laevis transcribed sequence with weak similarity more 73.57(n)    AW635257.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc563132 similar to peroxisomal biogenesis factor 3 74.59(n)   393197  BC046066.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG68591 , 3 peroxisome organization and biogenesis3
    CG68591
    32(a)3
    47.52(n)1
    39.07(a)1
      71B53
    396521  NM_140496.21  NP_648753.11 
    worm
    (Caenorhabditis elegans)
    Secernentea prx-36
    PeRoXisome assembly factor family member (prx-3)
    21(a)
    1 ↔ 1
    X(6110760-6112881)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PEX31 Pex3p 39.64(n)
    24.36(a)
      851929   NP_010616.3 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons PEX3-11 peroxin-3 44.88(n)
    31.31(a)
      821342  NM_112698.3  NP_566598.1 
    rice
    (Oryza sativa)
    Liliopsida Os09g03143001 hypothetical protein 45.96(n)
    30.77(a)
      4346691  NM_001069374.1  NP_001062839.1 


    ENSEMBL Gene Tree for PEX3 (if available)
    TreeFam Gene Tree for PEX3 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/654 NCBI SNPs in PEX3 are shown (see all 654    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs626412301,2
    Cuntested168888959(+) TCACT-/TGTCAT 2 TV TCH fra10--------
    rs1113389041,2
    --141334602(+) GGGCTT/ACATGT 1 -- us2k11Minor allele frequency- A:0.00CSA 1
    rs737783881,2
    C,--141334707(+) CTAGCG/AAGCTT 1 -- us2k11Minor allele frequency- A:0.50WA 2
    rs37897861,2
    C,F,H,--141334918(+) CAATAG/CGGCTA 1 -- us2k17Minor allele frequency- C:0.01NA NS EA 556
    rs1124572591,2
    C,--141335032(+) AACAAG/ACTTTT 1 -- us2k11Minor allele frequency- A:0.50NA 2
    rs762050471,2
    --141335167(+) CCGATT/CGTACA 1 -- us2k11Minor allele frequency- C:0.01WA 118
    rs77412611,2
    H--141335846(+) gcggcT/Cgcgcg 1 -- ut51 ese34Minor allele frequency- C:0.00NS EA 420
    rs735803051,2
    C,--141336566(+) CCTATA/GGGCTG 1 -- int12Minor allele frequency- G:0.03WA 120
    rs122045141,2
    H--141336909(+) GGAATA/GAAAGT 1 -- int14Minor allele frequency- G:0.00NS EA 420
    rs789960421,2
    --141336930(+) ATATGA/TAAAGG 1 -- int10--------

    HapMap Linkage Disequilibrium report for PEX3 (143771918 - 143811753 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for PEX3: --
    Human Gene Mutation Database (HGMD): PEX3

    Locus Specific Mutation Databases (LSDB): PEX3

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    (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

    PEX3 for disorders           About GeneDecksing

    OMIM gene information: 603164   
    OMIM disorders: 214100  
    UniProtKB/Swiss-Prot: PEX3_HUMAN, P56589
  • Defects in PEX3 are the cause of peroxisome biogenesis disorder complementation group 12 (PBD-CG12)
  • [MIM:614882]; also known as PBD-CGG. PBD refers to a group of peroxisomal disorders arising from a failure of protein
    import into the peroxisomal membrane or matrix. The PBD group is comprised of four disorders: Zellweger syndrome
    (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia
    punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping
    phenotypes known as the Zellweger spectrum. The PBD group is genetically heterogeneous with at least 14 distinct
    genetic groups as concluded from complementation studies
  • Defects in PEX3 are a cause of peroxisome biogenesis disorder 10A (PBD10A) [MIM:614882]. A fatal peroxisome
  • biogenesis disorder characterized by dysmorphic facial features, hepatomegaly, ocular abnormalities, renal cysts,
    hearing impairment, profound psychomotor retardation, severe hypotonia and neonatal seizures. Death occurs within the
    first year of life

    14 diseases for PEX3:    About MalaCards
    peroxisomal biogenesis disorder    peroxisome biogenesis disorders    peroxisome biogenesis factor    zellweger syndrome
    zellweger syndrome, complementation group g    rhizomelic chondrodysplasia punctata    chondrodysplasia punctata    infantile refsum disease
    zellweger syndrome spectrum    neonatal adrenoleukodystrophy    refsum disease    chondrodysplasia
    adrenoleukodystrophy    hypotonia

    4 diseases from the University of Copenhagen DISEASES database for PEX3:
    Zellweger syndrome     Infantile refsum disease     Adrenoleukodystrophy     Rhizomelic chondrodysplasia punctata

    1 Novoseek disease relationship for PEX3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    zellweger syndrome 90.4 6 10958759 (2), 10871277 (1), 10968777 (1), 10942428 (1)

    GeneTests: PEX3
    Zellweger Syndrome Spectrum


    Export disorders for PEX3 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 PEX3 gene, integrated from 9 sources (see all 41):
    (articles sorted by number of sources associating them with PEX3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of the gene encoding the human peroxisomal assembly protein Pex3p. (PubMed id 9657383)1, 2, 3 Kammerer S.... Roscher A.A. (1998)
    2. PEX3 functions as a PEX19 docking factor in the import of class I peroxisomal membrane proteins. (PubMed id 15007061)1, 2, 9 Fang Y.... Gould S.J. (2004)
    3. Defective peroxisome membrane synthesis due to mutations in human PEX3 causes Zellweger syndrome, complementation group G. (PubMed id 10958759)1, 2, 9 Muntau A.C.... Roscher A.A. (2000)
    4. Identification and characterization of the human peroxin PEX3. (PubMed id 10430017)1, 2, 9 Soukupova M.... Dodt G. (1999)
    5. The human PEX3 gene encoding a peroxisomal assembly protein: genomic organization, positional mapping, and mutation analysis in candidate phenotypes. (PubMed id 10679269)1, 2, 9 Muntau A.C....Kammerer S. (2000)
    6. The peroxin pex3p initiates membrane assembly in peroxisome biogenesis. (PubMed id 10848631)1, 2, 9 Ghaedi K.... Fujiki Y. (2000)
    7. Insights into peroxisome function from the structure of PEX3 in complex with a soluble fragment of PEX19. (PubMed id 20554521)1, 2 Schmidt F....Dodt G. (2010)
    8. Structural basis for docking of peroxisomal membrane protein carrier Pex19p onto its receptor Pex3p. (PubMed id 21102411)1, 2 Sato Y....Kato H. (2010)
    9. 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)
    10. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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    NCBI Bookshelf
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 8504 HGNC: 8858 AceView: PEX3 Ensembl:ENSG00000034693 euGenes: HUgn8504
    ECgene: PEX3 Kegg: 8504 H-InvDB: PEX3

    (According to HUGE)
    About This Section
      --

    (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 PEX3 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PEX3

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PEX3 gene:
    Search GeneIP for patents involving PEX3

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



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