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Aliases for PEX26 Gene

Aliases for PEX26 Gene

  • Peroxisomal Biogenesis Factor 26 2 3 5
  • Peroxisome Biogenesis Factor 26 2 3
  • Peroxin-26 3 4
  • Peroxisome Biogenesis Disorder, Complementation Group 8 3
  • Peroxisome Biogenesis Disorder, Complementation Group A 3
  • Pex26pM1T 3
  • PEX26M1T 3
  • PBD7A 3
  • PBD7B 3

External Ids for PEX26 Gene

Previous GeneCards Identifiers for PEX26 Gene

  • GC22P016935
  • GC22P018560
  • GC22P002373

Summaries for PEX26 Gene

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 7b and peroxisome biogenesis disorder 7a. Among its related pathways are Peroxisome. GO annotations related to this gene include protein complex binding and ATPase binding.

UniProtKB/Swiss-Prot for PEX26 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PEX26 Gene

Genomics for PEX26 Gene

Regulatory Elements for PEX26 Gene

Promoters for PEX26 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PEX26 on UCSC Golden Path with GeneCards custom track

Genomic Location for PEX26 Gene

Chromosome:
22
Start:
18,077,920 bp from pter
End:
18,131,138 bp from pter
Size:
53,219 bases
Orientation:
Plus strand

Genomic View for PEX26 Gene

Genes around PEX26 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PEX26 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PEX26 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PEX26 Gene

Proteins for PEX26 Gene

  • Protein details for PEX26 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z412-PEX26_HUMAN
    Recommended name:
    Peroxisome assembly protein 26
    Protein Accession:
    Q7Z412
    Secondary Accessions:
    • F6UBB5
    • Q7Z413
    • Q7Z414
    • Q7Z415
    • Q7Z416
    • Q96B12
    • Q9NWQ0
    • Q9NXU0

    Protein attributes for PEX26 Gene

    Size:
    305 amino acids
    Molecular mass:
    33898 Da
    Quaternary structure:
    • Interacts directly with PEX6 via its cytoplasmic domain. Interacts indirectly with PEX1, via its interaction with PEX6.
    SequenceCaution:
    • Sequence=BAA90920.1; Type=Erroneous termination; Positions=253; Note=Translated as Lys.; Evidence={ECO:0000305};

    Alternative splice isoforms for PEX26 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PEX26 Gene

Proteomics data for PEX26 Gene at MOPED

Post-translational modifications for PEX26 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PEX26 Gene

No data available for DME Specific Peptides for PEX26 Gene

Domains & Families for PEX26 Gene

Gene Families for PEX26 Gene

Protein Domains for PEX26 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for PEX26 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q7Z412

UniProtKB/Swiss-Prot:

PEX26_HUMAN :
  • Belongs to the peroxin-26 family.
Family:
  • Belongs to the peroxin-26 family.
genes like me logo Genes that share domains with PEX26: view

Function for PEX26 Gene

Molecular function for PEX26 Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for PEX26 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008022 protein C-terminus binding IPI 15713480
genes like me logo Genes that share ontologies with PEX26: view
genes like me logo Genes that share phenotypes with PEX26: view

Human Phenotype Ontology for PEX26 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PEX26 Gene

MGI Knock Outs for PEX26:

Animal Model Products

miRNA for PEX26 Gene

miRTarBase miRNAs that target PEX26

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PEX26 Gene

Localization for PEX26 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PEX26 Gene

Peroxisome membrane; Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PEX26 Gene COMPARTMENTS Subcellular localization image for PEX26 gene
Compartment Confidence
peroxisome 5
cytosol 2
endoplasmic reticulum 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for PEX26 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005779 integral component of peroxisomal membrane IEA --
genes like me logo Genes that share ontologies with PEX26: view

Pathways & Interactions for PEX26 Gene

SuperPathways for PEX26 Gene

Superpath Contained pathways
1 Peroxisome
genes like me logo Genes that share pathways with PEX26: view

Pathways by source for PEX26 Gene

1 KEGG pathway for PEX26 Gene

Gene Ontology (GO) - Biological Process for PEX26 Gene

None

No data available for SIGNOR curated interactions for PEX26 Gene

Drugs & Compounds for PEX26 Gene

No Compound Related Data Available

Transcripts for PEX26 Gene

Unigene Clusters for PEX26 Gene

Peroxisomal biogenesis factor 26:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PEX26 Gene

No ASD Table

Relevant External Links for PEX26 Gene

GeneLoc Exon Structure for
PEX26
ECgene alternative splicing isoforms for
PEX26

Expression for PEX26 Gene

mRNA expression in normal human tissues for PEX26 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PEX26 Gene

This gene is overexpressed in Bone (30.0), Lung (16.4), and Platelet (12.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PEX26 Gene



SOURCE GeneReport for Unigene cluster for PEX26 Gene Hs.517400

mRNA Expression by UniProt/SwissProt for PEX26 Gene

Q7Z412-PEX26_HUMAN
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.
genes like me logo Genes that share expression patterns with PEX26: view

Protein tissue co-expression partners for PEX26 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for PEX26 Gene

Orthologs for PEX26 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PEX26 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PEX26 35
  • 83.27 (n)
  • 81.27 (a)
PEX26 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PEX26 35
  • 83.06 (n)
  • 79.21 (a)
PEX26 36
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pex26 35
  • 79.11 (n)
  • 76 (a)
Pex26 16
Pex26 36
  • 74 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PEX26 35
  • 98.58 (n)
  • 98.36 (a)
PEX26 36
  • 79 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pex26 35
  • 79.22 (n)
  • 75.67 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia PEX26 36
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves PEX26 35
  • 63.86 (n)
  • 53.48 (a)
PEX26 36
  • 50 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PEX26 36
  • 47 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pex26 35
  • 50.26 (n)
  • 40.31 (a)
zebrafish
(Danio rerio)
Actinopterygii pex26 35
  • 48.12 (n)
  • 35.84 (a)
pex26 36
  • 31 (a)
OneToOne
Species with no ortholog for PEX26:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PEX26 Gene

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

Paralogs for PEX26 Gene

(5) SIMAP similar genes for PEX26 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with PEX26: view

No data available for Paralogs for PEX26 Gene

Variants for PEX26 Gene

Sequence variations from dbSNP and Humsavar for PEX26 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
VAR_018647 Peroxisome biogenesis disorder 7B (PBD7B)
VAR_018648 Peroxisome biogenesis disorder 7A (PBD7A)
VAR_018649 Peroxisome biogenesis disorder 7B (PBD7B)
rs12484657 - 18,083,522(+) AAAAC(C/G)TTCCA reference, missense
rs361537 -- 18,087,580(+) TTCCC(A/G)TAAGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PEX26 Gene

Variant ID Type Subtype PubMed ID
nsv428385 CNV Gain+Loss 18775914
nsv914159 CNV Gain 21882294
nsv524564 CNV Loss 19592680
dgv1380e1 CNV Complex 17122850
nsv469560 CNV Gain 16826518
nsv471594 CNV Gain+Loss 15918152

Variation tolerance for PEX26 Gene

Residual Variation Intolerance Score: 62% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.69; 32.22% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PEX26 Gene

HapMap Linkage Disequilibrium report
PEX26
Human Gene Mutation Database (HGMD)
PEX26

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PEX26 Gene

Disorders for PEX26 Gene

MalaCards: The human disease database

(10) MalaCards diseases for PEX26 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
peroxisome biogenesis disorder 7b
  • pbd7b
peroxisome biogenesis disorder 7a
  • pbd7a
neonatal adrenoleukodystrophy
  • adrenoleukodystrophy autosomal neonatal form
peroxisome biogenesis disorder 1b
  • infantile refsum disease
zellweger spectrum
  • zellweger syndrome
- elite association - COSMIC cancer census association via MalaCards
Search PEX26 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PEX26_HUMAN
  • 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. {ECO:0000269 PubMed:12851857}. 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. {ECO:0000269 PubMed:12717447, ECO:0000269 PubMed:12851857}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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). {ECO:0000269 PubMed:12717447, ECO:0000269 PubMed:12851857, ECO:0000269 PubMed:19105186}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PEX26

Genetic Association Database (GAD)
PEX26
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PEX26
genes like me logo Genes that share disorders with PEX26: view

No data available for Genatlas for PEX26 Gene

Publications for PEX26 Gene

  1. Mutations in novel peroxin gene PEX26 that cause peroxisome- biogenesis disorders of complementation group 8 provide a genotype- phenotype correlation. (PMID: 12851857) Matsumoto N. … Fujiki Y. (Am. J. Hum. Genet. 2003) 2 3 4 48 67
  2. The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes. (PMID: 12717447) Matsumoto N. … Fujiki Y. (Nat. Cell Biol. 2003) 2 3 23
  3. Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. (PMID: 19105186) Yik W.Y. … Hacia J.G. (Hum. Mutat. 2009) 3 23
  4. The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. (PMID: 15542397) Steinberg S. … Braverman N. (Mol. Genet. Metab. 2004) 3 23
  5. AAA peroxins and their recruiter Pex26p modulate the interactions of peroxins involved in peroxisomal protein import. (PMID: 25016021) Tamura S. … Fujiki Y. (J. Biol. Chem. 2014) 3

Products for PEX26 Gene

Sources for PEX26 Gene

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