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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.
PEX13
peroxisomal biogenesis factor 13
Chromosome 2 Β· 2p15
NCBI Gene: 5194Ensembl: ENSG00000162928.10HGNC: HGNC:8855UniProt: Q92968
67PubMed Papers
23Diseases
0Drugs
45Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingcellular response to reactive oxygen speciestransmembrane protein transporter activityperoxisomal membraneZellweger syndromeperoxisome biogenesis disorder 11A (Zellweger)peroxisome biogenesis disorder 11Bperoxisome biogenesis disorder
✦AI Summary

PEX13 is a peroxisomal membrane protein that functions as a critical component of the peroxisomal import machinery. It forms part of the PEX13-PEX14 docking complex, which acts as a selective translocon channel mediating the import of cargo proteins into peroxisomes 1. PEX13 contains a conserved tyrosine- and glycine-rich (YG) domain that forms a hydrogel-like selective phase resembling nuclear pore phenylalanine-glycine repeats, creating an aqueous conduit through which the PEX5 receptor transports folded cargo proteins across the peroxisomal membrane 12. This YG meshwork architecture enables selective partitioning of PEX5 and efficient protein translocation for both PTS1- and PTS2-type targeting sequences 2. Beyond its canonical import function, PEX13 serves a quality control role by preventing pexophagyβ€”selective autophagy-mediated peroxisome degradationβ€”in healthy organelles. Loss of PEX13 causes accumulation of ubiquitinated PEX5 and elevated peroxisomal reactive oxygen species, triggering aberrant pexophagy 3. PEX13 protein levels are downregulated during cellular stress to permit pexophagy induction as part of normal peroxisome homeostasis 3. Mutations in PEX13 cause peroxisome biogenesis disorders (PBD-11A and 11B), leading to impaired peroxisomal metabolism and neurodegenerative complications 4.

Sources cited
1
PEX13 contains a YG domain that forms a selective phase through which PEX5 transports folded cargo proteins across the peroxisomal membrane
PMID: 36520918
2
PEX13's YG domain forms a selective phase that enables import of both PTS1 and PTS2 cargo by PEX5 and PEX7 receptors
PMID: 40346349
3
PEX13 prevents pexophagy by regulating ubiquitinated PEX5 and peroxisomal ROS; PEX13 downregulation aids pexophagy induction during amino acid starvation
PMID: 36541703
4
Mutations in PEX13 cause peroxisome biogenesis disorder and neurodegenerative disease; PEX13 is required for protein import into peroxisomes
PMID: 11829486
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜23
Zellweger syndromeOpen Targets
0.81Strong
peroxisome biogenesis disorder 11A (Zellweger)Open Targets
0.79Strong
peroxisome biogenesis disorder 11BOpen Targets
0.78Strong
peroxisome biogenesis disorderOpen Targets
0.69Moderate
Peroxisome biogenesis disorder-Zellweger syndrome spectrumOpen Targets
0.62Moderate
neurodegenerative diseaseOpen Targets
0.48Moderate
lysosomal storage diseaseOpen Targets
0.40Weak
Zellweger spectrum disordersOpen Targets
0.37Weak
peroxisome biogenesis disorder 1BOpen Targets
0.37Weak
peroxisome biogenesis disorder 2BOpen Targets
0.37Weak
Parkinson diseaseOpen Targets
0.34Weak
multiple sclerosisOpen Targets
0.32Weak
autoimmune diseaseOpen Targets
0.27Weak
mathematical abilityOpen Targets
0.26Weak
Alzheimer diseaseOpen Targets
0.26Weak
atopic eczemaOpen Targets
0.24Weak
genetic disorderOpen Targets
0.19Weak
peroxisome biogenesis disorder 1A (Zellweger)Open Targets
0.17Weak
dermatitisOpen Targets
0.15Weak
Eczematoid dermatitisOpen Targets
0.15Weak
Peroxisome biogenesis disorder 11AUniProt
Peroxisome biogenesis disorder 11BUniProt
Peroxisome biogenesis disorder complementation group 13UniProt
Pathogenic Variants45
NM_002618.4(PEX13):c.977T>C (p.Ile326Thr)Likely pathogenic
Peroxisome biogenesis disorder 11B|Peroxisome biogenesis disorder 11A (Zellweger)|not provided|Peroxisome biogenesis disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 326
NM_002618.4(PEX13):c.508C>T (p.Arg170Ter)Pathogenic
not provided|Peroxisome biogenesis disorder|Peroxisome biogenesis disorder 11A (Zellweger)
β˜…β˜…β˜†β˜†2024β†’ Residue 170
NM_002618.4(PEX13):c.391C>T (p.Gln131Ter)Pathogenic
Peroxisome biogenesis disorder|Peroxisome biogenesis disorder 11A (Zellweger)
β˜…β˜…β˜†β˜†2024β†’ Residue 131
NM_002618.4(PEX13):c.573_582del (p.Arg193fs)Pathogenic
PEX13-related disorder|Peroxisome biogenesis disorder
β˜…β˜…β˜†β˜†2023β†’ Residue 193
NM_002618.4(PEX13):c.367G>T (p.Glu123Ter)Pathogenic
Peroxisome biogenesis disorder 11A (Zellweger)|Peroxisome biogenesis disorder 11B
β˜…β˜…β˜†β˜†2023β†’ Residue 123
NM_002618.4(PEX13):c.465T>G (p.Tyr155Ter)Pathogenic
Peroxisome biogenesis disorder 11A (Zellweger)|not provided
β˜…β˜…β˜†β˜†2021β†’ Residue 155
NM_002618.4(PEX13):c.586C>T (p.Gln196Ter)Pathogenic
Peroxisome biogenesis disorder 11A (Zellweger)
β˜…β˜†β˜†β˜†2026β†’ Residue 196
NM_002618.4(PEX13):c.544_545insAAT (p.Phe182Ter)Pathogenic
Peroxisome biogenesis disorder 11A (Zellweger)
β˜…β˜†β˜†β˜†2026β†’ Residue 182
NM_002618.4(PEX13):c.592del (p.Met198fs)Pathogenic
Peroxisome biogenesis disorder 11A (Zellweger)
β˜…β˜†β˜†β˜†2025β†’ Residue 198
NM_002618.4(PEX13):c.46C>T (p.Arg16Ter)Pathogenic
Peroxisome biogenesis disorder 11A (Zellweger)
β˜…β˜†β˜†β˜†2025β†’ Residue 16
NM_002618.4(PEX13):c.939G>A (p.Trp313Ter)Pathogenic
Peroxisome biogenesis disorder 11A (Zellweger)
β˜…β˜†β˜†β˜†2025β†’ Residue 313
NM_002618.4(PEX13):c.296del (p.Gly99fs)Pathogenic
Peroxisome biogenesis disorder 4A (Zellweger)
β˜…β˜†β˜†β˜†2025β†’ Residue 99
NM_002618.4(PEX13):c.531del (p.Val178fs)Likely pathogenic
PEX13-related disorder
β˜…β˜†β˜†β˜†2025β†’ Residue 178
NM_002618.4(PEX13):c.913+1G>TPathogenic
Peroxisome biogenesis disorder 11A (Zellweger)
β˜…β˜†β˜†β˜†2025
NM_002618.4(PEX13):c.294T>G (p.Tyr98Ter)Pathogenic
Peroxisome biogenesis disorder 11A (Zellweger)
β˜…β˜†β˜†β˜†2024β†’ Residue 98
NM_002618.4(PEX13):c.35G>A (p.Trp12Ter)Likely pathogenic
Peroxisome biogenesis disorder 11A (Zellweger);Peroxisome biogenesis disorder 11B
β˜…β˜†β˜†β˜†2024β†’ Residue 12
NM_002618.4(PEX13):c.213del (p.Phe71fs)Pathogenic
Peroxisome biogenesis disorder 11A (Zellweger)
β˜…β˜†β˜†β˜†2024β†’ Residue 71
NM_002618.4(PEX13):c.744C>A (p.Tyr248Ter)Likely pathogenic
Peroxisome biogenesis disorder 11A (Zellweger);Peroxisome biogenesis disorder 11B
β˜…β˜†β˜†β˜†2024β†’ Residue 248
NM_002618.4(PEX13):c.148del (p.Arg50fs)Pathogenic
Peroxisome biogenesis disorder 11A (Zellweger)
β˜…β˜†β˜†β˜†2024β†’ Residue 50
NM_002618.4(PEX13):c.201dup (p.Val68fs)Pathogenic
Peroxisome biogenesis disorder 11A (Zellweger)
β˜…β˜†β˜†β˜†2024β†’ Residue 68
View on ClinVar β†—
Related Genes
PEX11AProtein interaction100%ACOX3Protein interaction99%ABCD3Protein interaction98%PEX1Protein interaction98%PEX19Protein interaction95%SCP2Protein interaction95%
Tissue Expression6 tissues
Liver
100%
Heart
84%
Bone Marrow
48%
Brain
45%
Lung
42%
Ovary
39%
Gene Interaction Network
Click a node to explore
PEX13PEX11AACOX3ABCD3PEX1PEX19SCP2
PROTEIN STRUCTURE
Preparing viewer…
PDB7Z0I Β· 1.80 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.16LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.82 [0.59–1.16]
RankingsWhere PEX13 stands among ~20K protein-coding genes
  • #7,005of 20,598
    Most Researched67
  • #1,427of 5,498
    Most Pathogenic Variants45
  • #12,106of 17,882
    Most Constrained (LOEUF)1.16
Genes detectedPEX13
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Emerging views of mitophagy in immunity and autoimmune diseases.
PMID: 30951392
Autophagy Β· 2020
1.00
2
Integrated analysis of single-cell and bulk RNA sequencing data reveals a pan-cancer stemness signature predicting immunotherapy response.
PMID: 35488273
Genome Med Β· 2022
0.90
3
PEX13 prevents pexophagy by regulating ubiquitinated PEX5 and peroxisomal ROS.
PMID: 36541703
Autophagy Β· 2023
0.80
4
Protein import into peroxisomes occurs through a nuclear pore-like phase.
PMID: 36520918
Science Β· 2022
0.70
5
PMID: 20301621
0.60