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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PEX26
peroxisomal biogenesis factor 26
Chromosome 22 Β· 22q11.21
NCBI Gene: 55670Ensembl: ENSG00000215193.15HGNC: HGNC:22965UniProt: A0A024R100
43PubMed Papers
23Diseases
0Drugs
63Pathogenic Variants
FUNCTIONAL ROLE
Transporter
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingprotein-membrane adaptor activityprotein-containing complex bindingATPase bindingPeroxisome biogenesis disorder-Zellweger syndrome spectrumperoxisome biogenesis disorder 7A (Zellweger)Zellweger syndromeperoxisome biogenesis disorder
✦AI Summary

PEX26 is a peroxisomal membrane docking factor that anchors the PEX1-PEX6 AAA-ATPase complex to peroxisomal membranes 123. This docking function is essential for the PEX1-PEX6 complex to mediate extraction and recycling of the PEX5 cargo receptor from the peroxisomal membrane, a critical step in peroxisomal matrix protein import 123. PEX26 is a tail-anchored protein with a C-terminal transmembrane domain and interacts with PEX6 through its N-terminal region 4. Alternative splicing produces a cytosolic isoform (PEX26Ξ”ex5) lacking the transmembrane domain, which can still support peroxisome biogenesis, suggesting functional flexibility 45. During de novo peroxisome biogenesis, PEX26 is transiently recruited to mitochondria-derived pre-peroxisomal structures before maturation via endoplasmic reticulum-derived vesicles 6. Mutations in PEX26 cause peroxisome biogenesis disorders (PBD), including severe Zellweger spectrum disorder (ZSD), with approximately 90% of ZSD cases harboring mutations in PEX26 or related genes 7. Beyond peroxisomal function, PEX26 acts as a metastasis suppressor in colorectal cancer, with low expression correlating with poor survival and promoting epithelial-mesenchymal transition through Wnt pathway activation 8. In cancer drug resistance, PEX26 silencing enhances pexophagy (peroxisomal autophagy) and sensitizes cells to therapy, with low PEX26 expression associated with improved survival in lymphoma, lung cancer, and melanoma 9.

Sources cited
1
PEX26 is a tail-anchored protein with a C-terminal transmembrane domain and interacts with PEX6 through its N-terminal region .
PMID: 15858711
2
During de novo peroxisome biogenesis, PEX26 is transiently recruited to mitochondria-derived pre-peroxisomal structures before maturation via endoplasmic reticulum-derived vesicles .
PMID: 28146471
3
Mutations in PEX26 cause peroxisome biogenesis disorders (PBD), including severe Zellweger spectrum disorder (ZSD), with approximately 90% of ZSD cases harboring mutations in PEX26 or related genes .
PMID: 39757991
4
Beyond peroxisomal function, PEX26 acts as a metastasis suppressor in colorectal cancer, with low expression correlating with poor survival and promoting epithelial-mesenchymal transition through Wnt pathway activation .
PMID: 37957408
5
In cancer drug resistance, PEX26 silencing enhances pexophagy (peroxisomal autophagy) and sensitizes cells to therapy, with low PEX26 expression associated with improved survival in lymphoma, lung cancer, and melanoma .
PMID: 34074205
Disease Associationsβ“˜23
Peroxisome biogenesis disorder-Zellweger syndrome spectrumOpen Targets
0.83Strong
peroxisome biogenesis disorder 7A (Zellweger)Open Targets
0.81Strong
Zellweger syndromeOpen Targets
0.77Strong
peroxisome biogenesis disorderOpen Targets
0.70Strong
Zellweger spectrum disordersOpen Targets
0.66Moderate
peroxisome biogenesis disorder 1BOpen Targets
0.60Moderate
peroxisome biogenesis disorder 1A (Zellweger)Open Targets
0.41Moderate
amelogenesis imperfectaOpen Targets
0.37Weak
peroxisome biogenesis disorder 2BOpen Targets
0.37Weak
peroxisome biogenesis disorder type 3BOpen Targets
0.37Weak
corneal neovascularizationOpen Targets
0.24Weak
genetic disorderOpen Targets
0.19Weak
secondary malignant neoplasmOpen Targets
0.18Weak
Retinal dystrophyOpen Targets
0.14Weak
optic atrophyOpen Targets
0.11Weak
glycoprotein storage diseaseOpen Targets
0.05Suggestive
hemoglobin H diseaseOpen Targets
0.04Suggestive
Hemoglobin C - beta-thalassemiaOpen Targets
0.04Suggestive
hemoglobin C-beta-thalassemia syndromeOpen Targets
0.04Suggestive
combined immunodeficiency due to OX40 deficiencyOpen Targets
0.04Suggestive
Peroxisome biogenesis disorder 7AUniProt
Peroxisome biogenesis disorder 7BUniProt
Peroxisome biogenesis disorder complementation group 8UniProt
Pathogenic Variants63
NM_001127649.3(PEX26):c.574C>T (p.Arg192Ter)Pathogenic
Peroxisome biogenesis disorder|Peroxisome biogenesis disorder 7A (Zellweger);Peroxisome biogenesis disorder 7B|not provided|Peroxisome biogenesis disorder 7A (Zellweger)
β˜…β˜…β˜†β˜†2026β†’ Residue 192
NM_001127649.3(PEX26):c.292C>T (p.Arg98Trp)Pathogenic
Peroxisome biogenesis disorder 7B|not provided|Peroxisome biogenesis disorder|Peroxisome biogenesis disorder 7A (Zellweger);Peroxisome biogenesis disorder 7B|Peroxisome biogenesis disorder 7A (Zellweger)|PEX26-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 98
NM_001127649.3(PEX26):c.265G>A (p.Gly89Arg)Pathogenic
Peroxisome biogenesis disorder 7A (Zellweger)|Peroxisome biogenesis disorder 7A (Zellweger);Peroxisome biogenesis disorder 7B|Peroxisome biogenesis disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 89
NM_001127649.3(PEX26):c.230+1G>TPathogenic
Peroxisome biogenesis disorder 7A (Zellweger)|Peroxisome biogenesis disorder 7A (Zellweger);Peroxisome biogenesis disorder 7B|Peroxisome biogenesis disorder
β˜…β˜…β˜†β˜†2025
NM_001127649.3(PEX26):c.34dup (p.Leu12fs)Pathogenic
Peroxisome biogenesis disorder 7A (Zellweger)|Peroxisome biogenesis disorder 7B|Peroxisome biogenesis disorder 7A (Zellweger);Peroxisome biogenesis disorder 7B|Peroxisome biogenesis disorder|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 12
NM_001127649.3(PEX26):c.3G>A (p.Met1Ile)Pathogenic
Peroxisome biogenesis disorder 7A (Zellweger);Peroxisome biogenesis disorder 7B|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 1
NM_001127649.3(PEX26):c.2T>C (p.Met1Thr)Pathogenic
Peroxisome biogenesis disorder 7B|Peroxisome biogenesis disorder 7A (Zellweger)|not provided|Peroxisome biogenesis disorder 7A (Zellweger);Peroxisome biogenesis disorder 7B
β˜…β˜…β˜†β˜†2025β†’ Residue 1
NM_001127649.3(PEX26):c.354del (p.Val120fs)Pathogenic
Peroxisome biogenesis disorder 7A (Zellweger);Peroxisome biogenesis disorder 7B|Peroxisome biogenesis disorder 7A (Zellweger)
β˜…β˜…β˜†β˜†2024β†’ Residue 120
NM_001127649.3(PEX26):c.190_191del (p.Leu65fs)Pathogenic
Peroxisome biogenesis disorder 7A (Zellweger);Peroxisome biogenesis disorder 7B|PEX26-related disorder|Peroxisome biogenesis disorder 7A (Zellweger)
β˜…β˜…β˜†β˜†2024β†’ Residue 65
NM_001127649.3(PEX26):c.34del (p.Leu12fs)Pathogenic
Peroxisome biogenesis disorder 7A (Zellweger)
β˜…β˜…β˜†β˜†2024β†’ Residue 12
NM_001127649.3(PEX26):c.254dup (p.Cys86fs)Pathogenic
Peroxisome biogenesis disorder 7B|Peroxisome biogenesis disorder 7A (Zellweger)|Peroxisome biogenesis disorder 7A (Zellweger);Peroxisome biogenesis disorder 7B
β˜…β˜…β˜†β˜†2024β†’ Residue 86
NM_001127649.3(PEX26):c.27_58dup (p.Arg20fs)Pathogenic
Peroxisome biogenesis disorder 7A (Zellweger)|Peroxisome biogenesis disorder 7A (Zellweger);Peroxisome biogenesis disorder 7B
β˜…β˜…β˜†β˜†2024β†’ Residue 20
NM_001127649.3(PEX26):c.329_330del (p.Tyr110fs)Pathogenic
Peroxisome biogenesis disorder 7A (Zellweger);Peroxisome biogenesis disorder 7B|Peroxisome biogenesis disorder 7A (Zellweger)
β˜…β˜…β˜†β˜†2024β†’ Residue 110
NM_001127649.3(PEX26):c.613del (p.Gln205fs)Pathogenic
not provided|Peroxisome biogenesis disorder 7A (Zellweger);Peroxisome biogenesis disorder 7B
β˜…β˜…β˜†β˜†2023β†’ Residue 205
NM_001127649.3(PEX26):c.185G>A (p.Trp62Ter)Pathogenic
Peroxisome biogenesis disorder|Peroxisome biogenesis disorder 7A (Zellweger);Peroxisome biogenesis disorder 7B
β˜…β˜…β˜†β˜†2023β†’ Residue 62
NM_001127649.3(PEX26):c.667+2T>CPathogenic
Peroxisome biogenesis disorder 7A (Zellweger);Peroxisome biogenesis disorder 7B|Peroxisome biogenesis disorder
β˜…β˜…β˜†β˜†2023
NM_001127649.3(PEX26):c.436C>T (p.Gln146Ter)Pathogenic
Peroxisome biogenesis disorder 7A (Zellweger)|Peroxisome biogenesis disorder 7A (Zellweger);Peroxisome biogenesis disorder 7B
β˜…β˜…β˜†β˜†2023β†’ Residue 146
NM_001127649.3(PEX26):c.384C>G (p.Tyr128Ter)Likely pathogenic
Peroxisome biogenesis disorder 7A (Zellweger)
β˜…β˜†β˜†β˜†2026β†’ Residue 128
NM_001127649.3(PEX26):c.493C>T (p.Gln165Ter)Pathogenic
Peroxisome biogenesis disorder 7A (Zellweger);Peroxisome biogenesis disorder 7B
β˜…β˜†β˜†β˜†2026β†’ Residue 165
NM_001127649.3(PEX26):c.298C>T (p.Gln100Ter)Pathogenic
Peroxisome biogenesis disorder 7A (Zellweger);Peroxisome biogenesis disorder 7B
β˜…β˜†β˜†β˜†2025β†’ Residue 100
View on ClinVar β†—
Related Genes
PEX5LProtein interaction96%ABCD1Protein interaction74%ABCD3Protein interaction74%AGPSProtein interaction74%PEX11BProtein interaction74%PEX5Protein interaction72%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
77%
Liver
77%
Heart
53%
Lung
48%
Ovary
43%
Gene Interaction Network
Click a node to explore
PEX26PEX5LABCD1ABCD3AGPSPEX11BPEX5
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q7Z412
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.89LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.60 [0.41–0.89]
RankingsWhere PEX26 stands among ~20K protein-coding genes
  • #9,768of 20,598
    Most Researched43
  • #1,133of 5,498
    Most Pathogenic Variants63 Β· top quartile
  • #8,018of 17,882
    Most Constrained (LOEUF)0.89
Genes detectedPEX26
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Zellweger syndrome; identification of mutations in
PMID: 39757991
Ann Med Β· 2025
1.00
2
PMID: 20301621
0.90
3
Newly born peroxisomes are a hybrid of mitochondrial and ER-derived pre-peroxisomes.
PMID: 28146471
Nature Β· 2017
0.80
4
PEX26 Functions as a Metastasis Suppressor in Colorectal Cancer.
PMID: 37957408
Dig Dis Sci Β· 2024
0.70
5
Isoform-specific domain organization determines conformation and function of the peroxisomal biogenesis factor PEX26.
PMID: 30366024
Biochim Biophys Acta Mol Cell Res Β· 2019
0.60