PEX26 peroxisomal biogenesis factor 26 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PEX26provided by HGNC
Official Full Name: peroxisomal biogenesis factor 26provided by HGNC
Primary source: HGNC:HGNC:22965
See related: Ensembl:ENSG00000215193 MIM:608666
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PBD7A; PBD7B; PEX26M1T; Pex26pM1T
Summary: 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]
Expression: Ubiquitous expression in colon (RPKM 17.4), small intestine (RPKM 11.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 22q11.21

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
109.20210226	current	GRCh38.p13 (GCF_000001405.39)	22	NC_000022.11 (18077990..18105396)
105.20201022	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (18560756..18588162)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

There are no significant differences between PEX1-, PEX6-, and PEX26-associated phenotypes inclinical and genetic spectrum of Heimler syndrome.
Title: Expanding the clinical and genetic spectrum of Heimler syndrome.
An autosomal recessive missense variant, c.153C>A (p.F51L) in PEX26 was identified in Ashkenazi Jewish individual with a milder form of Zellweger spectrum and hearing loss. Binding of Pex26-F51L to Pex1 and Pex6 is severely impaired and affects peroxisome assembly. Pex26 in the patient's fibroblasts is reduced to approximately 30% of control, suggesting that Pex26-F51L is unstable in cells. There are also other changes...
Title: A newly identified mutation in the <i>PEX26</i> gene is associated with a milder form of Zellweger spectrum disorder.
Data support an alternative PEX14-dependent mechanism of peroxisomal membrane association for the splice variant, which lacks a transmembrane domain. Structure-function relationships of PEX26 isoforms explain an extended function in peroxisomal homeostasis and these findings may improve our understanding of the broad phenotype of PEX26-associated human disorders.
Title: Isoform-specific domain organization determines conformation and function of the peroxisomal biogenesis factor PEX26.
In yeast, PEX26 follows the pathway that also ensures correct targeting of Pex15: PEX26 enters the endoplasmic reticulum (ER) in a GET-dependent and Pex19-independent manner.
Title: Conserved targeting information in mammalian and fungal peroxisomal tail-anchored proteins.
results suggested that peroxisome biogenesis requires Pex1p- and Pex6p-regulated dissociation of Pex14p from Pex26p
Title: AAA peroxins and their recruiter Pex26p modulate the interactions of peroxins involved in peroxisomal protein import.
PEX19 formed a complex with the peroxisomal tail anchored protein PEX26 in the cytosol and translocated it directly to peroxisomes by a TRC40-independent class I pathway.
Title: Tail-anchored PEX26 targets peroxisomes via a PEX19-dependent and TRC40-independent class I pathway.
the relative fraction of disease-causing alleles that occur in the coding and splice junction sequences of PEX26 gene.
Title: Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.
We analyzed targeting of human PEX26. Its C-terminal-targeting signal contains two binding sites for PEX19 and we conclude C-terminal PEX19-binding sites mark tail-anchored proteins for delivery to peroxisomes.
Title: Targeting of the tail-anchored peroxisomal membrane proteins PEX26 and PEX15 occurs through C-terminal PEX19-binding sites.
Pex26p functions in recruiting to peroxisomes the complexes of the AAA ATPase peroxins.
Title: Mutations in the peroxin Pex26p responsible for peroxisome biogenesis disorders of complementation group 8 impair its stability, peroxisomal localization, and interaction with the Pex1p x Pex6p complex.
PEX26 deficiency impairs peroxisomal import of both PTS1- and PTS2-targeted matrix proteins. It undergoes alternative splicing to produce several splice forms, including PEX26-delta, which rescues peroxisome biogenesis in PEX26-deficient cells.
Title: Alternative splicing suggests extended function of PEX26 in peroxisome biogenesis.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Peroxisome biogenesis disorder 7A MedGen: C3888385 OMIM: 614872 GeneReviews: Not available	Compare labs
Peroxisome biogenesis disorder 7B MedGen: C3553951 OMIM: 614873 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

PMC156606P1 (e-PCR)
- UniSTS:271408

D8S2279 (e-PCR)
- UniSTS:473907

D22S967E (e-PCR)
- UniSTS:27191

PEX26_1033 (e-PCR)
- UniSTS:277582

SHGC-32781 (e-PCR)
- UniSTS:78454

RH47117 (e-PCR)
- UniSTS:24715

GDB:631802 (e-PCR)
- UniSTS:158429

RH103444 (e-PCR)
- UniSTS:97769

Homology

Homologs of the PEX26 gene: The PEX26 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 351 organisms have orthologs with human gene PEX26
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
ATPase binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
ATPase binding	IPI Inferred from Physical Interaction more info	PubMed
protein C-terminus binding	IPI Inferred from Physical Interaction more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein-containing complex binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
protein import into peroxisome matrix	IBA Inferred from Biological aspect of Ancestor more info	PubMed
protein import into peroxisome matrix	IDA Inferred from Direct Assay more info	PubMed
protein import into peroxisome matrix	IMP Inferred from Mutant Phenotype more info	PubMed
protein import into peroxisome membrane	IEA Inferred from Electronic Annotation more info
protein targeting to peroxisome	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
integral component of peroxisomal membrane	IEA Inferred from Electronic Annotation more info
peroxisomal membrane	TAS Traceable Author Statement more info
peroxisome	IBA Inferred from Biological aspect of Ancestor more info	PubMed
peroxisome	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: peroxisome assembly protein 26

Names: peroxin-26; peroxisome biogenesis disorder, complementation group 8; peroxisome biogenesis disorder, complementation group A; peroxisome biogenesis factor 26

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.