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PEX26 Gene

protein-coding   GIFtS: 61
GCID: GC22P018560

Peroxisomal Biogenesis Factor 26

(Previous name: peroxisome biogenesis factor 26)
  See PEX26-related diseases
at
MalaCards
 

Aliases
for PEX26 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Peroxisomal Biogenesis Factor 261 2     peroxin-262
Peroxisome Biogenesis Factor 261 2     Peroxisome Assembly Protein 262
PBD7A2 5     Peroxisome Biogenesis Disorder, Complementation Group 82
PBD7B2 5     Peroxisome Biogenesis Disorder, Complementation Group A2
PEX26M1T2     Peroxin-263
Pex26pM1T2     

External Ids:    HGNC: 229651   Entrez Gene: 556702   Ensembl: ENSG000002151937   OMIM: 6086665   UniProtKB: Q7Z4123   

Export aliases for PEX26 gene to outside databases

Previous GC identifers: GC22P016935 GC22P002373


Summaries
for PEX26 gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PEX26 Gene:
This gene belongs to the peroxin-26 gene family. It is probably required for protein import into peroxisomes. It
anchors PEX1 and PEX6 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the
import of proteins into peroxisomes. Defects in this gene are the cause of peroxisome biogenesis disorder
complementation group 8 (PBD-CG8). 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). Alternatively spliced transcript variants have been identified for this gene.
(provided by RefSeq, Dec 2010)

GeneCards Summary for PEX26 Gene:
PEX26 (peroxisomal biogenesis factor 26) is a protein-coding gene. Diseases associated with PEX26 include peroxisome biogenesis disorder 7a, and peroxisome biogenesis disorder 7b. GO annotations related to this gene include ATPase binding and protein C-terminus binding.

UniProtKB/Swiss-Prot: PEX26_HUMAN, Q7Z412
Function: Probably required for protein import into peroxisomes. Anchors PEX1 and PEX6 to peroxisome membranes,
possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes. Involved
in the import of catalase and proteins containing a PTS2 target sequence, but not in import of proteins with a
PTS1 target sequence

Gene Wiki entry for PEX26 Gene


Genomic Views
for PEX26 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)
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RefSeq DNA sequence at NCBI GenBank:
NC_000022.10  NC_018933.2  NT_187355.1  
Regulatory elements:
   Regulatory transcription factor binding sites in the PEX26 gene promoter:
         FOXF2   AP-1   GATA-1   C/EBPalpha   RORalpha1   POU2F1   POU2F1a   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: PEX26 promoter sequence
   Search Chromatin IP Primers for PEX26

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PEX26


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

Entrez Gene cytogenetic band: 22q11.21   Ensembl cytogenetic band:  22q11.21   HGNC cytogenetic band: 22q11.21

PEX26 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PEX26 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P018560:  view genomic region     (about GC identifiers)

Start:
 18,560,686 bp from pter      End:
 18,613,905 bp from pter
Size:
 53,220 bases      Orientation:
 plus strand

Proteins
for PEX26 gene

(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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: PEX26_HUMAN, Q7Z412 (See protein sequence)
Recommended Name: Peroxisome assembly protein 26  
Size: 305 amino acids; 33898 Da
Subunit: Interacts directly with PEX6 via its cytoplasmic domain. Interacts indirectly with PEX1, via its
interaction with PEX6
Sequence caution: Sequence=BAA90920.1; Type=Erroneous termination; Positions=253; Note=Translated as Lys;
Secondary accessions: F6UBB5 Q7Z413 Q7Z414 Q7Z415 Q7Z416 Q96B12 Q9NWQ0 Q9NXU0
Alternative splicing: 2 isoforms:  Q7Z412-1   Q7Z412-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PEX26: NX_Q7Z412

Explore proteomics data for PEX26 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

    • See PEX26 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001121121.1  NP_001186248.1  NP_060399.1  

    ENSEMBL proteins: 
     ENSP00000331106   ENSP00000382648   ENSP00000434235   ENSP00000412441  

    PEX26 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for PEX26
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    Novus Biologicals PEX26 Proteins
    Novus Biologicals PEX26 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for PEX26
    Cloud-Clone Corp. Proteins for PEX26

         		 Search eBioscience for Proteins for PEX26 

         		antibodies-online proteins for PEX26 (4 products) 

         		antibodies-online peptides for PEX26

    PEX26 Antibody Products:

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    antibodies-online antibodies for PEX26 (13 products) 

    PEX26 Assay Products:

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    Cloud-Clone Corp. ELISAs for PEX26
    Cloud-Clone Corp. CLIAs for PEX26
    Search eBioscience for ELISAs for PEX26 
    antibodies-online kits for PEX26 (4 products) 

    Domains /
    Families
    for PEX26 gene

    (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:
     IPR010797 Pex26

    Graphical View of Domain Structure for InterPro Entry Q7Z412

    ProtoNet protein and cluster: Q7Z412

    1 Blocks protein domain: IPB010797 Pex26

    UniProtKB/Swiss-Prot: PEX26_HUMAN, Q7Z412
    Similarity: Belongs to the peroxin-26 family


    Find genes that share domains with PEX26           About GenesLikeMe


    Function
    for PEX26 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PEX26_HUMAN, Q7Z412
    Function: Probably required for protein import into peroxisomes. Anchors PEX1 and PEX6 to peroxisome membranes,
    possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes. Involved
    in the import of catalase and proteins containing a PTS2 target sequence, but not in import of proteins with a
    PTS1 target sequence

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI16189514
    GO:0008022protein C-terminus binding IPI15713480
    GO:0032403protein complex binding IDA16854980
    GO:0051117ATPase binding IPI16257970
         
    Find genes that share ontologies with PEX26           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for PEX26:
     Increased gamma-H2AX phosphory  Large cells 

         1 MGI phenotypic allele for Pex26 (no phenotypes)

    Find genes that share phenotypes with PEX26           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for PEX26

    miRNA
    Products:            		miRTarBase miRNAs that target PEX26:
    hsa-mir-23a-3p (MIRT050399)

    Block miRNA regulation of human, mouse, rat PEX26 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PEX26 (see all 28):
    hsa-miR-485-5p hsa-miR-3130-5p hsa-miR-875-3p hsa-miR-24-1* hsa-miR-548s hsa-miR-3921 hsa-miR-650 hsa-miR-105
    SwitchGear 3'UTR luciferase reporter plasmid: PEX26 3' UTR sequence
    Inhib. RNA
    Products:            		OriGene RNAi products in human, mouse, rat for PEX26
    Predesigned siRNA for gene silencing in human, mouse, rat PEX26

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for PEX26

    Clone
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    OriGene ORF clones in mouse, rat for PEX26
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    GenScript: all cDNA clones in your preferred vector (see all 3): PEX26 (NM_001127649)
    Sino Biological Human cDNA Clone for PEX26
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PEX26
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PEX26

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for PEX26 
    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PEX26


    Localization
    for PEX26 gene

    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PEX26_HUMAN, Q7Z412: Peroxisome membrane; Single-pass type II membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    peroxisome5
    cytosol2
    endoplasmic reticulum1
    mitochondrion1
    nucleus1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005777peroxisome IDA15858711
    GO:0005779integral component of peroxisomal membrane IEA--

    Find genes that share ontologies with PEX26           About GenesLikeMe


    Pathways & Interactions
    for PEX26 gene

    (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).
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    SuperPaths for PEX26 About    
    See pathways by source

    		      Powered
    by    		     
    SuperPathContained pathways About
    1Peroxisome
    		Peroxisome


    Find genes that share SuperPaths with PEX26           About GenesLikeMe

    Pathways by source                                   See SuperPaths
    Show all pathways




    1 Kegg Pathway  (Kegg details for PEX26):
        Peroxisome

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PEX26
    Interactions:

        GeneGlobe Interaction Network for PEX26

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    Selected Interacting proteins for PEX26 (Q7Z4121, 2, 3 ENSP000003311064) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PEX19P408551, 2, 3, ENSP000003570514EBI-752057,EBI-594747 MINT-7995658 MINT-7995855 MINT-7995624 MINT-7995841 MINT-8071608 MINT-8071594 I2D: score=1 STRING: ENSP00000357051
    SUFUQ9UMX11, 3, ENSP000003589184EBI-752057,EBI-740595 I2D: score=5 STRING: ENSP00000358918
    PEX1O439333, ENSP000002486334I2D: score=2 STRING: ENSP00000248633
    PEX6Q136083, ENSP000003035114I2D: score=3 STRING: ENSP00000303511
    PEX3P565893, ENSP000003565634I2D: score=1 STRING: ENSP00000356563
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016558protein import into peroxisome matrix IMP15858711
    GO:0045046protein import into peroxisome membrane IEA--

    Find genes that share ontologies with PEX26           About GenesLikeMe



    Drugs & Compounds
    for PEX26 gene

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

    Browse Tocris compounds for PEX26



    Transcripts
    for PEX26 gene

    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for PEX26 gene (3 alternative transcripts): 
    NM_001127649.2  NM_001199319.1  NM_017929.5  

    Unigene Cluster for PEX26:

    Peroxisomal biogenesis factor 26
    Hs.517400  [show with all ESTs]
    Unigene Representative Sequence: NM_001127649
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000329627(uc002znp.4 uc002znt.3 uc002znq.4) ENST00000399744
    ENST00000474897 ENST00000428061
    miRNA
    Products:             		 Block miRNA regulation of human, mouse, rat PEX26 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PEX26 (see all 28):
    hsa-miR-485-5p hsa-miR-3130-5p hsa-miR-875-3p hsa-miR-24-1* hsa-miR-548s hsa-miR-3921 hsa-miR-650 hsa-miR-105
    SwitchGear 3'UTR luciferase reporter plasmid: PEX26 3' UTR sequence
    Inhib. RNA
    Products:             		OriGene RNAi products in human, mouse, rat for PEX26
    Predesigned siRNA for gene silencing in human, mouse, rat PEX26
    Clone
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    OriGene ORF clones in mouse, rat for PEX26
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): PEX26 (NM_001127649)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PEX26
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PEX26
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PEX26
      QuantiTect SYBR Green Assays in human, mouse, rat PEX26
      QuantiFast Probe-based Assays in human, mouse, rat PEX26

    Additional mRNA sequence: 

    AB089678.1 AB103104.1 AB103105.1 AB103106.1 AB103107.1 AB103108.1 AB103109.1 AB103110.1 
    AB242826.1 AB242827.1 AB242828.1 AB242829.1 AB242830.1 BC016280.1 BC047320.1 CR456362.1 

    11 DOTS entries:

    DT.109957  DT.91832054  DT.75133840  DT.101973828  DT.109955  DT.100786521  DT.101982707  DT.95375377 
    DT.100786518  DT.428261  DT.75128691 

    Selected AceView cDNA sequences (see all 181):

    NM_018943 CR620426 AI869536 CR621131 CA424779 CR456600 BC047320 BU170001 
    AB089678 BQ575902 AA676826 CB153452 BC074827 AK056947 BI917830 BF059267 
    BM511724 BE326971 H55532 AL704505 AI636019 AW235279 BF195571 F36680 

    GeneLoc Exon Structure


    Expression
    for PEX26 gene

    (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)
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    PEX26 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAACATTCCA
    PEX26 Expression
    About this image

    PEX26 Protein expression data from MOPED1, PaxDb2 and MaxQB3:     About this image

    PEX26 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.517400

    UniProtKB/Swiss-Prot: PEX26_HUMAN, Q7Z412
    Tissue specificity: Widely expressed. Highly expressed in kidney, liver, brain and skeletal muscles. Expressed at
    intermediate level in pancreas, placenta and heart. Weakly expressed in lung

        Custom PCR Arrays for PEX26
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PEX26

    Orthologs
    for PEX26 gene

    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for PEX26 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Pex261 , 5 peroxisomal biogenesis factor 261, 5 79.11(n)1
    76(a)1    		   6 (57.13 cM)5
    740431  NM_028730.51  NP_083006.11 
     1211836675 
    chicken
    (Gallus gallus)    		 Aves PEX261 peroxisomal biogenesis factor 26 63.86(n)
    53.48(a)    		   418165  XM_416396.3  XP_416396.3 
    lizard
    (Anolis carolinensis)    		 Reptilia PEX266
    		 peroxisomal biogenesis factor 26
    		 47(a)
    		 1 ↔ 1
    		 5(14321792-14327035)
    tropical clawed frog
    (Xenopus tropicalis)    		 Amphibia pex261 peroxisomal biogenesis factor 26 50.26(n)
    40.31(a)    		   100145166  NM_001172301.1  NP_001165772.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii pex261 peroxisomal biogenesis factor 26 48.12(n)
    35.84(a)    		   334644  NM_199920.1  NP_956214.1 


    ENSEMBL Gene Tree for PEX26 (if available)
    TreeFam Gene Tree for PEX26 (if available)

    Paralogs
    for PEX26 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PEX26 gene
    5 SIMAP similar genes for PEX26 using alignment to 2 protein entries:     PEX26_HUMAN (see all proteins):
    PEX26C457G+C861del    PEX26intG231T    PEX26C292T    PEX26C350T    PEX26T131C

    Find genes that share paralogs with PEX26           About GenesLikeMe



    Genomic Variants
    for PEX26 gene

    (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

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    Selected SNPs for PEX26 (see all 438)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 22 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    VAR_0186484
    		Peroxisome biogenesis disorder 7A (PBD7A)4--see VAR_0186482 G R mis40--------
    VAR_0186474
    		Peroxisome biogenesis disorder 7B (PBD7B)4--see VAR_0186472 L P mis40--------
    VAR_0186494
    		Peroxisome biogenesis disorder 7B (PBD7B)4--see VAR_0186492 R W mis40--------
    rs743155061,2
    		Cpathogenic12503053(+) CGTTAC/TGAAGA 6 T M mis10--------
    rs617521321,2
    		Cpathogenic12503185(+) CCTCCC/TGGTGG 6 P L mis10--------
    rs289403081,2
    		Cpathogenic12504583(+) TTGTGA/GGGATC 6 R G mis10--------
    rs626412281,2
    		Cpathogenic12504610(+) TGGATC/TGGTGG 6 R W mis11Minor allele frequency- T:0.00NA 4552
    rs617521291,2
    		Cuntested12503085(+) CCCCC-/CTCAGG 6 L PQ fra10--------
    rs617521301,2
    		Cuntested12503088(+) CCCTC-/AGGGGGC 6 G R fra10--------
    rs617521311,2
    		Cuntested12503182(+) CGACCC/TCCTGG 6 P L mis10--------

    HapMap Linkage Disequilibrium report for PEX26 (18560686 - 18613905 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for PEX26:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv524564CNV Loss19592680
    nsv914159CNV Gain21882294
    nsv469560CNV Gain16826518
    nsv471594CNV Gain+Loss15918152
    nsv428385CNV Gain+Loss18775914
    dgv1380e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): PEX26
    Locus Specific Mutation Databases (LSDB): PEX26

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PEX26
    DNA2.0 Custom Variant and Variant Library Synthesis for PEX26

    Disorders / Diseases
    for PEX26 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus    		 OMIM gene information: 608666   
    OMIM disorders: 614872  614873  
    UniProtKB/Swiss-Prot: PEX26_HUMAN, Q7Z412
  • Peroxisome biogenesis disorder complementation group 8 (PBD-CG8) [MIM:614872]: 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 7A (PBD7A) [MIM:614872]: 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 7B (PBD7B) [MIM:614873]: 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

    • 13 diseases for PEX26:    
    About MalaCards
    peroxisome biogenesis disorder 7a    peroxisome biogenesis disorder 7b    infantile refsum disease    neonatal adrenoleukodystrophy
    rhizomelic chondrodysplasia punctata    peroxisome biogenesis disorders, zellweger syndrome spectrum    adrenoleukodystrophy    hawkinsinuria
    refsum disease    peroxisome biogenesis disorder 11b    peroxisome biogenesis disorder 2b    zellweger syndrome
    zellweger spectrum

    3 inferred disease relationships from the University of Copenhagen DISEASES database for PEX26:
    Zellweger syndrome     Infantile refsum disease     Adrenoleukodystrophy

    Find genes that share disorders with PEX26           About GenesLikeMe

    GeneTests: PEX26
    GeneReviews: PEX26
    Genetic Association Database (GAD): PEX26

    Export disorders for PEX26 gene to outside databases

    Publications
    for PEX26 gene

    (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 PEX26 gene, integrated from 10 sources (see all 24):
    (articles sorted by number of sources associating them with PEX26)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in novel peroxin gene PEX26 that cause peroxisome- biogenesis disorders of complementation group 8 provide a genotype- phenotype correlation. (PubMed id 12851857)1, 2, 3, 4 Matsumoto N.... Fujiki Y. (Am. J. Hum. Genet. 2003)
    2. The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes. (PubMed id 12717447)1, 2, 3, 9 Matsumoto N.... Fujiki Y. (Nat. Cell Biol. 2003)
    3. 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. (Hum. Mutat. 2009)
    4. 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)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (Genome Biol. 2004)
    7. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2 Dunham I.... Wright H. (Nature 1999)
    8. The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. (PubMed id 15542397)1, 9 Steinberg S....Braverman N. (Mol. Genet. Metab. 2004)
    9. Tail-anchored PEX26 targets peroxisomes via a PEX19-dependent and TRC40-independent class I pathway. (PubMed id 23460677)1 Yagita Y....Fujiki Y. (J. Cell Biol. 2013)
    10. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PubMed id 22814378)2 Van Damme P....Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012)

    External Searches for PEX26 gene

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

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    Genome Databases showing PEX26 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 55670 HGNC: 22965 AceView: PEX26andTUBA8 Ensembl:ENSG00000215193 euGenes: HUgn55670
    ECgene: PEX26 Kegg: 55670 H-InvDB: PEX26

    Other Databases showing PEX26 gene

    (According to HUGE)
    About This Section

    TryGeneCards Plus    		   --

    Specialized Databases showing PEX26 gene

    (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 PEX26 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=PEX26[genesymbol]
    dbPEX, PEX Gene Databasehttp://www.dbpex.org/home.php?select_db=PEX26

    Intellectual Property
    for PEX26 gene

    (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 PEX26 gene:
    Search GeneIP for patents involving PEX26

    GeneCards and IP:
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