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PEX26 Gene

protein-coding GIFtS: 61
GCID: GC22P018560

Peroxisomal Biogenesis Factor 26

(Previous name: peroxisome biogenesis factor 26)

See related diseases
at

MalaCards

(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

(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 7b, and infantile refsum disease. 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

(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:

NC_000022.11 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

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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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

PEX26 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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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 ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	IPI	16189514
GO:0008022	protein C-terminus binding	IPI	15713480
GO:0032403	protein complex binding	IDA	16854980
GO:0051117	ATPase binding	IPI	16257970

PEX26 for ontologies About GeneDecksing

Phenotypes:
2 GenomeRNAi human phenotypes for PEX26:

Increased gamma-H2AX phosphory

Large cells

1 MGI phenotypic allele

for Pex26 (no phenotypes)

PEX26 for phenotypes About GeneDecksing

Animal Models:

inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PEX26

inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PEX26

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PEX26

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. 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
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Gene Editing
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DNA2.0 Custom Protein Engineering Service for PEX26

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		Sino Biological Human cDNA Clone for PEX26
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for PEX26
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PEX26

(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:

Compartment	Confidence
peroxisome	5
cytosol	2
endoplasmic reticulum	1
mitochondrion	1
nucleus	1

About this image

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005777	peroxisome	IDA	15858711
GO:0005779	integral component of peroxisomal membrane	IEA	--

PEX26 for ontologies About GeneDecksing

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for PEX26 About

See pathways by source

SuperPath

Contained pathways About

Peroxisome

Peroxisome

Pathways by source See SuperPaths
Show all pathways

1 Kegg Pathway (Kegg details for PEX26):

Peroxisome

PEX26 for pathways About GeneDecksing

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 (Q7Z412^{1, 2, 3} ENSP00000331106⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 6)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PEX19	P40855¹^,²^,³, ENSP00000357051⁴	EBI-752057,EBI-594747 MINT-7995658 MINT-7995855 MINT-7995624 MINT-7995841 MINT-8071608 MINT-8071594 I2D: score=1 STRING: ENSP00000357051
SUFU	Q9UMX1¹^,³, ENSP00000358918⁴	EBI-752057,EBI-740595 I2D: score=5 STRING: ENSP00000358918
PEX1	O43933³, ENSP00000248633⁴	I2D: score=2 STRING: ENSP00000248633
PEX6	Q13608³, ENSP00000303511⁴	I2D: score=3 STRING: ENSP00000303511
PEX3	P56589³, ENSP00000356563⁴	I2D: score=1 STRING: ENSP00000356563

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0016558	protein import into peroxisome matrix	IMP	15858711
GO:0045046	protein import into peroxisome membrane	IEA	--

PEX26 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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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

(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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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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

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		GenScript: all cDNA clones in your preferred vector (see all 3): PEX26 (NM_001127649)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for PEX26
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Primer Products:		OriGene qSTAR qPCR primer pairs in human, mouse for PEX26
		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

(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

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

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PEX26

(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	Pex26^{1 , 5}	peroxisomal biogenesis factor 26^{1, 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 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

PEX26 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Valid	Clinical significance	Chr 22 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
VAR_018648⁴		Peroxisome biogenesis disorder 7A (PBD7A)⁴	--	see VAR_018648	2	G R	mis⁴		0	--	--	--	--
VAR_018647⁴		Peroxisome biogenesis disorder 7B (PBD7B)⁴	--	see VAR_018647	2	L P	mis⁴		0	--	--	--	--
VAR_018649⁴		Peroxisome biogenesis disorder 7B (PBD7B)⁴	--	see VAR_018649	2	R W	mis⁴		0	--	--	--	--
rs74315506^1,2	C	pathogenic¹	2503053(+)	`CGTTAC/TGAAGA`	6	T M	mis¹		0	--	--	--	--
rs61752132^1,2	C	pathogenic¹	2503185(+)	`CCTCCC/TGGTGG`	6	P L	mis¹		0	--	--	--	--
rs28940308^1,2	C	pathogenic¹	2504583(+)	`TTGTGA/GGGATC`	6	R G	mis¹		0	--	--	--	--
rs62641228^1,2	C	pathogenic¹	2504610(+)	`TGGATC/TGGTGG`	6	R W	mis¹		1		NA	4552
rs61752129^1,2	C	untested¹	2503085(+)	`CCCCC-/CTCAGG`	6	L PQ	fra¹		0	--	--	--	--
rs61752130^1,2	C	untested¹	2503088(+)	`CCCTC-/AGGGGGC`	6	G R	fra¹		0	--	--	--	--
rs61752131^1,2	C	untested¹	2503182(+)	`CGACCC/TCCTGG`	6	P L	mis¹		0	--	--	--	--

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

Structural Variations
Database of Genomic Variants (DGV) 6 variations for PEX26: About this table

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

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

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

19 diseases for PEX26: About MalaCards

peroxisome biogenesis disorder 7b infantile refsum disease peroxisome biogenesis disorder 7a neonatal adrenoleukodystrophy

peroxisome disorders peroxisome biogenesis disorders, zellweger syndrome spectrum peroxisome biogenesis disorder 2b hawkinsinuria

refsum disease rhizomelic chondrodysplasia punctata adrenoleukodystrophy zellweger spectrum

zellweger syndrome chondrodysplasia hypotonia sensorineural hearing loss

retinitis multiple myeloma myeloma

3 diseases from the University of Copenhagen DISEASES database for PEX26:

Zellweger syndrome Infantile refsum disease Adrenoleukodystrophy

PEX26 for disorders About GeneDecksing

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

Export disorders for PEX26 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)
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PubMed articles for PEX26 gene, integrated from 10 sources (see all 24):
(articles sorted by number of sources associating them with PEX26)

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world of online information

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)
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)
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)
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)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (Nat. Genet. 2004)
A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)^{1, 2} Collins J.E.... Dunham I. (Genome Biol. 2004)
The DNA sequence of human chromosome 22. (PubMed id 10591208)^{1, 2} Dunham I.... Wright H. (Nature 1999)
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)
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)
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)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
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)
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Entrez Gene: 55670	HGNC: 22965	AceView: PEX26andTUBA8	Ensembl:ENSG00000215193	euGenes: HUgn55670
ECgene: PEX26	Kegg: 55670	H-InvDB: PEX26

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for PEX26	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/books/NBK1116/?term=PEX26[genesymbol]
dbPEX, PEX Gene Database	http://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.)

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Patent Information for PEX26 gene:
Search GeneIP for patents involving PEX26

GeneCards and IP:
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PEX26 Gene

Peroxisomal Biogenesis Factor 26

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PEX26 Gene

Peroxisomal Biogenesis Factor 26

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