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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.
PEX10
peroxisomal biogenesis factor 10
Chromosome 1 Β· 1p36.32
NCBI Gene: 5192Ensembl: ENSG00000157911.11HGNC: HGNC:8851UniProt: D6RA89
50PubMed Papers
23Diseases
0Drugs
142Pathogenic Variants
FUNCTIONAL ROLE
Transporter
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingprotein polyubiquitinationperoxisome organizationprotein import into peroxisome matrixperoxisome biogenesis disorder 6BZellweger syndromePeroxisome biogenesis disorder-Zellweger syndrome spectrumperoxisome biogenesis disorder 6A (Zellweger)
✦AI Summary

PEX10 is an E3 ubiquitin-protein ligase component of a peroxisomal retrotranslocation channel essential for peroxisome organization 1. The channel comprises three RING finger proteins (PEX2, PEX10, PEX12) that co-assemble transmembrane segments into an open pore, with PEX10's ring finger domain positioned above the channel 1. PEX10 mediates recycling of the PEX5 receptor from peroxisomes to cytosol by monoubiquitylating receptor N-termini during extraction through the pore 21. When recycling is compromised, PEX10 catalyzes polyubiquitylation of PEX5, leading to its proteasomal degradation and maintaining peroxisomal import factor homeostasis 1. Mutations in PEX10 cause peroxisome biogenesis disorders 6A and 6B, which present with cerebellar atrophy, ataxia, mental retardation, and neurological dysfunction 3. Hypomorphic PEX10 variants can cause milder phenotypes with translation reinitiation mechanisms 4. Beyond canonical peroxisomal function, PEX10 expression is regulated by androgen receptor signaling in prostate cancer, where enzalutamide-mediated PEX10 inhibition sensitizes cells to reactive oxygen species activators, suggesting therapeutic potential 56. PEX10 polymorphisms are associated with nonobstructive azoospermia susceptibility 7.

Sources cited
1
PEX10 is part of a ubiquitin ligase complex functioning as a retrotranslocation channel; structure shows three transmembrane-spanning subunits with cytosolic ring finger domains; mediates monoubiquitylation of receptors for extraction and polyubiquitylation for degradation
PMID: 35768507
2
PEX10 mediates export of PEX5 receptor from peroxisomes to cytosol and promotes PEX5 recycling through E3 ubiquitin-protein ligase activity
PMID: 24662292
3
PEX10 mutations cause peroxisome biogenesis disorder 6B presenting with cerebellar atrophy, ataxia, mental retardation, intention tremor, nystagmus, and neurological abnormalities
PMID: 30640048
4
PEX10 identified as candidate for translation reinitiation mechanism causing mild disease presentation in inherited ataxia
PMID: 34234304
5
PEX10 expression is induced by ROS activators and regulated by androgen receptor signaling; enzalutamide inhibits PEX10 and synergizes with ROS activators in prostate cancer
PMID: 39097593
6
PEX10 is an AR-regulated mediator of ferroptosis resistance in prostate cancer
PMID: 40819692
7
PEX10 gene polymorphism rs2477686 is associated with nonobstructive azoospermia susceptibility
PMID: 30863997
Disease Associationsβ“˜23
peroxisome biogenesis disorder 6BOpen Targets
0.81Strong
Zellweger syndromeOpen Targets
0.79Strong
Peroxisome biogenesis disorder-Zellweger syndrome spectrumOpen Targets
0.79Strong
peroxisome biogenesis disorder 6A (Zellweger)Open Targets
0.78Strong
peroxisome biogenesis disorderOpen Targets
0.72Strong
peroxisome biogenesis disorder, complementation group 7Open Targets
0.69Moderate
Zellweger spectrum disordersOpen Targets
0.61Moderate
genetic disorderOpen Targets
0.47Moderate
peroxisome biogenesis disorder 1A (Zellweger)Open Targets
0.41Moderate
autosomal recessive ataxia due to PEX10 deficiencyOpen Targets
0.37Weak
peroxisome biogenesis disorder 1BOpen Targets
0.37Weak
peroxisome biogenesis disorder 2BOpen Targets
0.37Weak
spastic ataxiaOpen Targets
0.34Weak
schizophreniaOpen Targets
0.14Weak
pericarditisOpen Targets
0.13Weak
amyotrophic lateral sclerosisOpen Targets
0.11Weak
glomerulonephritisOpen Targets
0.11Weak
celiac diseaseOpen Targets
0.10Suggestive
deficiency anemiaOpen Targets
0.10Suggestive
kidney diseaseOpen Targets
0.09Suggestive
Peroxisome biogenesis disorder 6AUniProt
Peroxisome biogenesis disorder 6BUniProt
Peroxisome biogenesis disorder complementation group 7UniProt
Pathogenic Variants142
NM_002617.4(PEX10):c.13_28delinsCCGCCAGCACCTGCGCCGCC (p.Ala5fs)Pathogenic
Peroxisome biogenesis disorder|Peroxisome biogenesis disorder 6A (Zellweger)|Peroxisome biogenesis disorder 6A (Zellweger);Peroxisome biogenesis disorder 6B|Zellweger spectrum disorders
β˜…β˜…β˜†β˜†2026β†’ Residue 5
NM_002617.4(PEX10):c.814_815del (p.Leu272fs)Pathogenic
Peroxisome biogenesis disorder 6B|Peroxisome biogenesis disorder 6A (Zellweger)|Peroxisome biogenesis disorder|Peroxisome biogenesis disorder, complementation group 7|not provided|Zellweger spectrum disorders|Peroxisome biogenesis disorder 6B;Peroxisome biogenesis disorder 6A (Zellweger)
β˜…β˜…β˜†β˜†2026β†’ Residue 272
NM_002617.4(PEX10):c.551del (p.Ile184fs)Pathogenic
Peroxisome biogenesis disorder 6A (Zellweger)|Peroxisome biogenesis disorder, complementation group 7
β˜…β˜…β˜†β˜†2026β†’ Residue 184
NM_002617.4(PEX10):c.704dup (p.Leu236fs)Pathogenic
Peroxisome biogenesis disorder 6A (Zellweger)|Peroxisome biogenesis disorder 6B|not provided|Peroxisome biogenesis disorder, complementation group 7|Peroxisome biogenesis disorder|Zellweger spectrum disorders|PEX10-related disorder|Peroxisome biogenesis disorder 6A (Zellweger);Peroxisome biogenesis disorder 6B
β˜…β˜…β˜†β˜†2026β†’ Residue 236
NM_002617.4(PEX10):c.338del (p.Leu113fs)Pathogenic
not provided|Peroxisome biogenesis disorder, complementation group 7|Peroxisome biogenesis disorder 6A (Zellweger)|Peroxisome biogenesis disorder|Zellweger spectrum disorders
β˜…β˜…β˜†β˜†2025β†’ Residue 113
NM_002617.4(PEX10):c.26del (p.Pro9fs)Pathogenic
Peroxisome biogenesis disorder 6A (Zellweger);Peroxisome biogenesis disorder 6B|Peroxisome biogenesis disorder, complementation group 7|Zellweger spectrum disorders
β˜…β˜…β˜†β˜†2025β†’ Residue 9
NM_002617.4(PEX10):c.730C>T (p.Arg244Ter)Pathogenic
Peroxisome biogenesis disorder 6B|Peroxisome biogenesis disorder 6A (Zellweger);Peroxisome biogenesis disorder 6B|Peroxisome biogenesis disorder 6A (Zellweger)|Peroxisome biogenesis disorder, complementation group 7|Peroxisome biogenesis disorder|Zellweger spectrum disorders|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 244
NM_002617.4(PEX10):c.776+2T>CLikely pathogenic
Peroxisome biogenesis disorder 6A (Zellweger);Peroxisome biogenesis disorder 6B|Peroxisome biogenesis disorder 6A (Zellweger)|Zellweger spectrum disorders
β˜…β˜…β˜†β˜†2025
NM_002617.4(PEX10):c.830T>C (p.Leu277Pro)Likely pathogenic
Peroxisome biogenesis disorder 6B|Peroxisome biogenesis disorder 6A (Zellweger);Peroxisome biogenesis disorder 6B|Peroxisome biogenesis disorder, complementation group 7|not provided|Peroxisome biogenesis disorder 6A (Zellweger)|Zellweger spectrum disorders
β˜…β˜…β˜†β˜†2025β†’ Residue 277
NM_002617.4(PEX10):c.26dup (p.Glu10fs)Pathogenic
Peroxisome biogenesis disorder, complementation group 7|Peroxisome biogenesis disorder 6A (Zellweger)|Peroxisome biogenesis disorder 6A (Zellweger);Peroxisome biogenesis disorder 6B|Zellweger spectrum disorders
β˜…β˜…β˜†β˜†2025β†’ Residue 10
NM_002617.4(PEX10):c.912+1G>CPathogenic
Peroxisome biogenesis disorder 6A (Zellweger);Peroxisome biogenesis disorder 6B|not provided|Peroxisome biogenesis disorder 6A (Zellweger)|Peroxisome biogenesis disorder, complementation group 7|Zellweger spectrum disorders
β˜…β˜…β˜†β˜†2025
NM_002617.4(PEX10):c.600+1G>APathogenic
Peroxisome biogenesis disorder 6A (Zellweger)|not provided|Peroxisome biogenesis disorder, complementation group 7|Peroxisome biogenesis disorder 6B|Peroxisome biogenesis disorder|Zellweger spectrum disorders|Peroxisome biogenesis disorder 6A (Zellweger);Peroxisome biogenesis disorder 6B|Lymphoma
β˜…β˜…β˜†β˜†2025
NM_002617.4(PEX10):c.373C>T (p.Arg125Ter)Pathogenic
Peroxisome biogenesis disorder 6B|Peroxisome biogenesis disorder 6A (Zellweger);Peroxisome biogenesis disorder 6B|Peroxisome biogenesis disorder, complementation group 7|Peroxisome biogenesis disorder|Peroxisome biogenesis disorder 6A (Zellweger)|Zellweger spectrum disorders
β˜…β˜…β˜†β˜†2025β†’ Residue 125
NM_002617.4(PEX10):c.587del (p.Thr196fs)Likely pathogenic
Peroxisome biogenesis disorder|Peroxisome biogenesis disorder 6A (Zellweger)|Zellweger spectrum disorders
β˜…β˜…β˜†β˜†2025β†’ Residue 196
NM_002617.4(PEX10):c.4del (p.Ala2fs)Pathogenic
not provided|Peroxisome biogenesis disorder 6B|Zellweger spectrum disorders|Peroxisome biogenesis disorder|Peroxisome biogenesis disorder, complementation group 7|PEX10-related disorder|Peroxisome biogenesis disorder 6A (Zellweger)
β˜…β˜…β˜†β˜†2025β†’ Residue 2
NM_002617.4(PEX10):c.3G>A (p.Met1Ile)Pathogenic
Peroxisome biogenesis disorder, complementation group 7|Zellweger spectrum disorders
β˜…β˜…β˜†β˜†2025β†’ Residue 1
NM_002617.4(PEX10):c.346_363delinsTGGGCCCCTG (p.Glu116fs)Pathogenic
Peroxisome biogenesis disorder 6A (Zellweger)|Peroxisome biogenesis disorder|Zellweger spectrum disorders
β˜…β˜…β˜†β˜†2025β†’ Residue 116
NM_002617.4(PEX10):c.835G>T (p.Glu279Ter)Pathogenic
not provided|Peroxisome biogenesis disorder, complementation group 7|Zellweger spectrum disorders|Peroxisome biogenesis disorder|Peroxisome biogenesis disorder 6A (Zellweger)
β˜…β˜…β˜†β˜†2025β†’ Residue 279
NM_002617.4(PEX10):c.814_815insG (p.Leu272fs)Pathogenic
Peroxisome biogenesis disorder, complementation group 7|Zellweger spectrum disorders
β˜…β˜…β˜†β˜†2025β†’ Residue 272
NM_002617.4(PEX10):c.1A>G (p.Met1Val)Pathogenic
not provided|Peroxisome biogenesis disorder 6A (Zellweger);Peroxisome biogenesis disorder 6B|Peroxisome biogenesis disorder, complementation group 7|Zellweger spectrum disorders|Peroxisome biogenesis disorder 6A (Zellweger)
β˜…β˜…β˜†β˜†2025β†’ Residue 1
View on ClinVar β†—
Related Genes
PEX11BProtein interaction100%PEX11AProtein interaction100%PEX3Protein interaction100%ACOX3Protein interaction99%ECI2Protein interaction97%GABARAPL2Protein interaction95%
Tissue Expression6 tissues
Brain
100%
Heart
90%
Liver
78%
Ovary
74%
Bone Marrow
49%
Lung
47%
Gene Interaction Network
Click a node to explore
PEX10PEX11BPEX11APEX3ACOX3ECI2GABARAPL2
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt O60683
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.23LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.92 [0.69–1.23]
RankingsWhere PEX10 stands among ~20K protein-coding genes
  • #8,858of 20,598
    Most Researched50
  • #535of 5,498
    Most Pathogenic Variants142 Β· top 10%
  • #12,996of 17,882
    Most Constrained (LOEUF)1.23
Genes detectedPEX10
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
PMID: 20301621
1.00
2
Enzalutamide inhibits PEX10 function and sensitizes prostate cancer cells to ROS activators.
PMID: 39097593
Cell Death Dis Β· 2024
0.90
3
High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families.
PMID: 34234304
Genet Med Β· 2021
0.80
4
Ataxia with novel compound heterozygous PEX10 mutations and a literature review of PEX10-related peroxisome biogenesis disorders.
PMID: 30640048
Clin Neurol Neurosurg Β· 2019
0.70
5
PEX10, SIRPA-SIRPG, and SOX5 gene polymorphisms are strongly associated with nonobstructive azoospermia susceptibility.
PMID: 30863997
J Assist Reprod Genet Β· 2019
0.60