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

PEX6 Gene

protein-coding   GIFtS: 63
GCID: GC06M042978

Peroxisomal Biogenesis Factor 6

  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
Peroxisomal Biogenesis Factor 61 2 3     PDB4B2
PXAAA12 3 5     peroxin-62
Peroxisomal-Type ATPase 12 3     Peroxisomal AAA-Type ATPase 12
PAF-22 3     Peroxisome Assembly Factor 22
PAF22 5     Peroxisome Biogenesis Factor 62
PBD4A2     Peroxin-63

External Ids:    HGNC: 88591   Entrez Gene: 51902   Ensembl: ENSG000001245877   OMIM: 6014985   UniProtKB: Q136083   

Export aliases for PEX6 gene to outside databases

Previous GC identifers: GC06M042933 GC06M043039 GC06M042648


(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 PEX6 Gene:
This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) family of ATPases.
This member is a predominantly cytoplasmic protein, which plays a direct role in peroxisomal protein import and
is required for PTS1 (peroxisomal targeting signal 1, a C-terminal tripeptide of the sequence ser-lys-leu)
receptor activity. Mutations in this gene cause peroxisome biogenesis disorders of complementation group 4 and
complementation group 6. (provided by RefSeq, Oct 2008)

GeneCards Summary for PEX6 Gene: 
PEX6 (peroxisomal biogenesis factor 6) is a protein-coding gene. Diseases associated with PEX6 include peroxisome biogenesis disorder complementation group 4, and maternally inherited leigh syndrome. GO annotations related to this gene include ATPase activity and protein C-terminus binding.

UniProtKB/Swiss-Prot: PEX6_HUMAN, Q13608
Function: Involved in peroxisome biosynthesis. Required for stability of the PTS1 receptor. Anchored by PEX26 to
peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into
peroxisomes

Gene Wiki entry for PEX6 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_000006.11  NT_007592.15  NC_018917.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PEX6 gene promoter:
         STAT1   AML1a   STAT1beta   YY1   Evi-1   STAT1alpha   Egr-2   HOXA5   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPEX6 promoter sequence
   Search SABiosciences Chromatin IP Primers for PEX6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PEX6


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

Entrez Gene cytogenetic band: 6p21.1   Ensembl cytogenetic band:  6p21.1   HGNC cytogenetic band: 6p22-p11

PEX6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PEX6 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M042978:  view genomic region     (about GC identifiers)

Start:
42,931,608 bp from pter      End:
42,946,981 bp from pter
Size:
15,374 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: PEX6_HUMAN, Q13608 (See protein sequence)
Recommended Name: Peroxisome assembly factor 2  
Size: 980 amino acids; 104061 Da
Subunit: Interacts directly with PEX26 and PEX1. Mediates the indirect interaction between PEX1 and PEX26.
Interacts with ZFAND6
Subcellular location: Cytoplasm. Peroxisome membrane. Note=Associated with peroxisomal membranes
Secondary accessions: Q8WYQ2 Q99476

Explore the universe of human proteins at neXtProt for PEX6: NX_Q13608

Explore proteomics data for PEX6 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q13608

  • PEX6 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PEX6 Protein Expression
    REFSEQ proteins: NP_000278.3  
    ENSEMBL proteins: 
     ENSP00000303511   ENSP00000244546  

    Human Recombinant Protein Products for PEX6: 
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    Novus Biologicals PEX6 Proteins
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PEX6 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA8670792
    GO:0005777peroxisome IDA11439091
    GO:0005778peroxisomal membrane IEA--
    GO:0005829cytosol IDA16854980

    PEX6 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    AATP: ATPases / AAA-type

    4 InterPro protein domains:
     IPR003959 ATPase_AAA_core
     IPR003960 ATPase_AAA_CS
     IPR027417 P-loop_NTPase
     IPR003593 AAA+_ATPase

    Graphical View of Domain Structure for InterPro Entry Q13608

    ProtoNet protein and cluster: Q13608

    1 Blocks protein domain: IPB003960 AAA-protein subdomain

    UniProtKB/Swiss-Prot: PEX6_HUMAN, Q13608
    Similarity: Belongs to the AAA ATPase family


    PEX6 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: PEX6_HUMAN, Q13608
    Function: Involved in peroxisome biosynthesis. Required for stability of the PTS1 receptor. Anchored by PEX26 to
    peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into
    peroxisomes

         Genatlas biochemistry entry for PEX6:
    peroxin 6,peroxisome biogenesis factor 6

         Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0005515protein binding IPI16257970
    GO:0005524ATP binding IMP16854980
    GO:0008022protein C-terminus binding IPI16854980
    GO:0016887ATPase activity IMP8670792
         
    PEX6 for ontologies           About GeneDecksing


    Animal Models:
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    SwitchGear 3'UTR luciferase reporter plasmidPEX6 3' UTR sequence
    Inhib. RNA
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    (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

    SuperPaths for PEX6 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Peroxisome
    Peroxisome

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1         Kegg Pathway  (Kegg details for PEX6):
        Peroxisome


    PEX6 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PEX6

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/25 Interacting proteins for PEX6 (Q136081, 2, 3 ENSP000003035114) via UniProtKB, MINT, STRING, and/or I2D (see all 25)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATF7IPQ6VMQ62, 3MINT-61894 I2D: score=3 
    PEX1O439331, 3, ENSP000002486334EBI-988581,EBI-988601 I2D: score=10 STRING: ENSP00000248633
    SMAD3P840223, ENSP000003329734I2D: score=4 STRING: ENSP00000332973
    AK6Q9Y3D83I2D: score=2 
    TAF9Q9Y3D83I2D: score=2 
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006200ATP catabolic process IMP8670792
    GO:0006625protein targeting to peroxisome IMP16854980
    GO:0007031peroxisome organization IMP8940266
    GO:0016561protein import into peroxisome matrix, translocation IMP8670792
    GO:0050821protein stabilization IMP8670792

    PEX6 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

    PEX6 for compounds           About GeneDecksing

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

    Browse Tocris compounds for PEX6

    5 Novoseek inferred chemical compound relationships for PEX6 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    actomyosin 44.3 2 1835384 (1)
    acyl-coa 35 1 11854424 (1)
    atp 11.7 4 9210412 (1), 1835384 (1)
    magnesium 6.76 1 9210412 (1)
    calcium 0 2 9210412 (1), 8675696 (1)

    Search CenterWatch for drugs/clinical trials and news about PEX6

    (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 PEX6 gene: 
    NM_000287.3  

    Unigene Cluster for PEX6:

    Peroxisomal biogenesis factor 6
    Hs.656425  [show with all ESTs]
    Unigene Representative Sequence: NM_000287
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000304611(uc003otf.3 uc010jya.3) ENST00000244546
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PEX6
    2 QIAGEN miScript miRNA Assays for microRNAs that regulate PEX6:
    hsa-miR-4254 hsa-miR-3157-5p
    SwitchGear 3'UTR luciferase reporter plasmidPEX6 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for PEX6
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PEX6
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PEX6
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PEX6
    Sirion Biotech Customized lentivirus for stable overexpression of PEX6 
                         Customized lentivirus expression plasmids for stable overexpression of PEX6 
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for PEX6
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PEX6
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PEX6

    Additional mRNA sequence: 

    AB051076.1 AB051077.1 AB051078.1 AK314237.1 BC033487.1 BC048331.1 D83703.1 

    11 DOTS entries:

    DT.97772771  DT.100783318  DT.91664193  DT.95280068  DT.100774435  DT.121394179  DT.40131739  DT.99980029 
    DT.100770460  DT.100783317  DT.99938508 

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

    AA324773 BM128966 CN481492 AB051077 AI654922 NM_000287 BM767959 BQ773648 
    BC048331 CN481379 AB051076 BQ065854 BQ054426 BX114032 BC033487 CB266400 
    BQ053030 CK819544 BM152500 CD653107 AW197902 BI160084 BM470130 CD515410 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for PEX6 (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17a · 17b · 17c
    SP1:                                                                    -                 -                                         -                           
    SP2:                    -                                               -                 -                                         -                           
    SP3:                                                                    -                       -     -     -                       -                           
    SP4:                                                                    -                 -                                                                     
    SP5:                                                                                                                                                            


    ECgene alternative splicing isoforms for PEX6

    (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

    PEX6 expression in normal human tissues (normalized intensities)      PEX6 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    PEX6 Expression
    About this image


    PEX6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/22 selected tissues (see all 22) fully expand
     
     Colon (Gastrointestinal Tract)    fully expand to see all 3 entries
             rectum ; glandular cells   
     
     Uterus (Reproductive System)    fully expand to see all 3 entries
             uterus, post-menopause ; glandular cells   
     
     Tonsil (Hematopoietic System)    fully expand to see all 3 entries
             tonsil ; squamous epithelial cells   
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Oral Cavity (Gastrointestinal Tract)    fully expand to see all 2 entries
             salivary gland ; glandular cells   

    See PEX6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PEX6

    SOURCE GeneReport for Unigene cluster: Hs.656425
        SABiosciences Custom PCR Arrays for PEX6
    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PEX6
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PEX6

    (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 PEX6 gene from 9/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pex61 , 5 peroxisomal biogenesis factor 61, 5 84.56(n)1
    88.06(a)1
      17 (22.90 cM)5
    2248241  NM_145488.11  NP_663463.11 
     467114635 
    chicken
    (Gallus gallus)
    Aves PEX61 peroxisomal biogenesis factor 6 67.79(n)
    68.31(a)
      416709  XM_415006.3  XP_415006.3 
    lizard
    (Anolis carolinensis)
    Reptilia PEX66
    Uncharacterized protein
    60(a)
    1 ↔ 1
    2(144862111-144877088)
    zebrafish
    (Danio rerio)
    Actinopterygii si:ch73-197b13.21 si:ch73-197b13.2 54.79(n)
    50.94(a)
      792998  XM_001332616.4  XP_001332652.4 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG119193 peroxisome organization and biogenesis 38(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea prx-63 ATPase 35(a)   V(4715239-4719853)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PEX6(YNL329C)4 AAA-peroxin that heterodimerizes with AAA-peroxin Pex1p more   --   14(22633-19541) 855387  NP_014070.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons PEX61 peroxin 6 47.72(n)
    43.15(a)
      839315  NM_100181.4  NP_171799.2 
    rice
    (Oryza sativa)
    Liliopsida Os.250462 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 71.47(n)    AK067035.1 


    ENSEMBL Gene Tree for PEX6 (if available)
    TreeFam Gene Tree for PEX6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PEX6 gene
    6 SIMAP similar genes for PEX6 using alignment to 4 protein entries:     PEX6_HUMAN (see all proteins):
    PSMC5    PSMC1    PSMC3    PSMC4    PSMC6    DKFZp667C165

    PEX6 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

    10/664 SNPs in PEX6 are shown (see all 664)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0583854
    Peroxisome biogenesis disorder complementation group 4 (PBD-CG4)4--see VAR_0583852 R Q mis40--------
    VAR_0583864
    Peroxisome biogenesis disorder complementation group 4 (PBD-CG4)4--see VAR_0583862 R W mis40--------
    VAR_0079184
    Peroxisome biogenesis disorder 4A (PBD4A)4--see VAR_0079182 R Q mis40--------
    VAR_0079194
    Peroxisome biogenesis disorder 4A (PBD4A)4--see VAR_0079192 R W mis40--------
    VAR_0583824
    Peroxisome biogenesis disorder complementation group 4 (PBD-CG4)4--see VAR_0583822 P L mis40--------
    VAR_0583844
    Peroxisome biogenesis disorder complementation group 4 (PBD-CG4)4--see VAR_0583842 N T mis40--------
    rs32096951,2
    C,Funtested142843040(-) AGGGTC/TTGGGA 1 -- ut311Minor allele frequency- T:0.04MN 184
    rs11291871,2,4
    C,F,Huntested142843182(-) GGAGCC/AAGGTA 2 /Q /P mis123Minor allele frequency- A:0.41MN NS EA NA WA EU 8076
    rs11291861,2
    C,Funtested142843184(-) CTGGAA/GCCAGG 2 E syn112Minor allele frequency- G:0.42NA WA CSA EA EU 5915
    rs617532321,2
    Cuntested142843528(-) GCAGG-/GTTCAT 2 F V fra10--------

    HapMap Linkage Disequilibrium report for PEX6 (42931608 - 42946981 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for PEX6:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv462927CNV Loss19166990
    nsv830651CNV Loss17160897


    Human Gene Mutation Database (HGMD): PEX6

    Locus Specific Mutation Databases (LSDB): PEX6
    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for PEX6

    (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: 601498    OMIM disorders: --

    UniProtKB/Swiss-Prot: PEX6_HUMAN, Q13608
  • Peroxisome biogenesis disorder complementation group 4 (PBD-CG4) [MIM:614862]: A peroxisomal disorder
    arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis
    disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from
    complementation studies. Include disorders are: 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
    (PBD-ZSS). Note=The disease is caused by mutations affecting the gene represented in this entry
  • Peroxisome biogenesis disorder 4A (PBD4A) [MIM:614862]: A fatal peroxisome biogenesis disorder belonging
    to the Zellweger disease spectrum and clinically characterized by severe neurologic dysfunction with profound
    psychomotor retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction,
    and biochemically by the absence of peroxisomes. Additional features include cardiovascular and skeletal defects,
    renal cysts, ocular abnormalities, and hearing impairment. Most severely affected individuals with the classic
    form of the disease (classic Zellweger syndrome) die within the first year of life. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Peroxisome biogenesis disorder 4B (PBD4B) [MIM:614863]: A peroxisome biogenesis disorder that includes
    neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two milder manifestations of the
    Zellweger disease spectrum. The clinical course of patients with the NALD and IRD presentation is variable and
    may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy and
    vision impairment. Children with the NALD presentation may reach their teens, while patients with the IRD
    presentation may reach adulthood. The clinical conditions are often slowly progressive in particular with respect
    to loss of hearing and vision. The biochemical abnormalities include accumulation of phytanic acid, very long
    chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 20/26 diseases for PEX6 (see all 26):    About MalaCards
    peroxisome biogenesis disorder complementation group 4    maternally inherited leigh syndrome    peroxisome biogenesis disorders    beta-ketothiolase deficiency
    ketothiolase deficiency    zellweger spectrum    peroxisome biogenesis disorders, zellweger syndrome spectrum    infantile refsum disease
    refsum disease    neonatal adrenoleukodystrophy    adrenoleukodystrophy    craniofacial abnormalities
    zellweger syndrome    rhizomelic chondrodysplasia punctata    peroxisome disorders    familial hypertrophic cardiomyopathy
    hypertrophic cardiomyopathy    usher syndrome    chondrodysplasia    hypotonia

    3 diseases from the University of Copenhagen DISEASES database for PEX6:
    Zellweger syndrome     Infantile refsum disease     Adrenoleukodystrophy

    PEX6 for disorders           About GeneDecksing

    4 Novoseek inferred disease relationships for PEX6 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    peroxisome biogenesis disorders 96.5 12 10408779 (3), 8670792 (1), 11330042 (1), 16854980 (1) (see all 6)
    zellweger syndrome 93.8 8 8940266 (2), 9671729 (2), 10408779 (1), 11330042 (1) (see all 5)
    adrenoleukodystrophy neonatal 88.5 1 9671729 (1)
    refsum disease infantile 86.9 1 9671729 (1)

    GeneTests: PEX6
    GeneReviews: PEX6

    Export disorders for PEX6 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 PEX6 gene, integrated from 9 sources (see all 61):
    (articles sorted by number of sources associating them with PEX6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor. (PubMed id 8670792)1, 2, 3, 9 Yahraus T.... Gould S.J. (1996)
    2. Genomic structure and identification of 11 novel mutations of the PEX6 'peroxisome assembly factor-2' gene in patients with peroxisome biogenesis disorders. (PubMed id 10408779)1, 2, 9 Zhang Z.... Kondo N. (1999)
    3. Human peroxisome assembly factor-2 (PAF-2): a gene responsible for group C peroxisome biogenesis disorder in humans. (PubMed id 8940266)1, 2, 9 Fukuda S.... Kondo N. (1996)
    4. The peroxin Pex6p gene is impaired in peroxisomal biogenesis disorders of complementation group 6. (PubMed id 11355018)1, 2, 9 Matsumoto N.... Fujiki Y. (2001)
    5. Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. (PubMed id 19105186)1, 2, 9 Yik W.Y....Hacia J.G. (2009)
    6. 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)
    7. The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes. (PubMed id 12717447)1, 2 Matsumoto N.... Fujiki Y. (2003)
    8. Spectrum of PEX6 mutations in Zellweger syndrome spec trum patients. (PubMed id 19877282)1, 9 Ebberink M.S....Waterham H.R. (2010)
    9. Disruption of a PEX1-PEX6 interaction is the most common cause of the neurologic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease. (PubMed id 9671729)1, 9 Geisbrecht B.V....Gould S.J. (1998)
    10. Dynamic and functional assembly of the AAA peroxins, Pex1p and Pex6p, and their membrane receptor Pex26p. (PubMed id 16854980)1, 9 Tamura S....Fujiki Y. (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: 5190 HGNC: 8859 AceView: PEX6 Ensembl:ENSG00000124587 euGenes: HUgn5190
    ECgene: PEX6 Kegg: 5190 H-InvDB: PEX6

    (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 PEX6 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PEX6
    dbPEX, PEX Gene Databasehttp://www.dbpex.org/home.php?select_db=PEX6

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PEX6 gene:
    Search GeneIP for patents involving PEX6

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



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