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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PEX3
peroxisomal biogenesis factor 3
Chromosome 6 Β· 6q24.2
NCBI Gene: 8504Ensembl: ENSG00000034693.16HGNC: HGNC:8858UniProt: P56589
82PubMed Papers
23Diseases
0Drugs
36Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindinglipid bindingprotein-containing complexprotein-lipid complexZellweger syndromeperoxisome biogenesis disorder 10A (Zellweger)peroxisome biogenesis disorderPeroxisome biogenesis disorder-Zellweger syndrome spectrum
✦AI Summary

PEX3 is a peroxisomal membrane protein essential for peroxisome biogenesis and organelle integrity. As a docking factor for PEX19, PEX3 facilitates the import of peroxisomal membrane proteins by assembling membrane vesicles before matrix protein translocation 1. PEX3 functions in a hybrid biogenesis pathway where it initially targets mitochondria, is released into vesicular pre-peroxisomal structures, and subsequently fuses with endoplasmic reticulum-derived vesicles containing PEX16 to achieve full import competence 2. Beyond classical peroxisome biogenesis, PEX3 regulates cellular metabolism through plasmalogen synthesis, activating the AKT/GSK3Ξ² signaling pathway via ITGB3 plasma membrane localization to promote myocardial regenerative repair 3. PEX3 also functions in metabolic adaptation; melanoma cells utilize peroxisome biogenesis mediated by PEX3 to reprogram lipid metabolism and tolerate MAPK inhibitors, and PEX3 repression sensitizes melanomas to therapy 4. Pathologically, elevated Scpep1 binds PEX3 to promote its degradation, impairing mitochondrial bioenergetics and exacerbating myocardial infarction-induced cardiac dysfunction 5. PEX3 dysfunction is associated with peroxisome biogenesis disorders 10A/10B and complementation group 12, highlighting its critical clinical significance in human genetic disease.

Sources cited
1
PEX3 functions as a docking factor for PEX19 in peroxisomal membrane protein insertion and assembly of membrane vesicles
PMID: 30776093
2
PEX3 targets mitochondria and participates in hybrid peroxisome biogenesis involving both mitochondrial and ER-derived pre-peroxisomes
PMID: 28146471
3
PEX3 promotes myocardial regenerative repair through plasmalogen metabolism and AKT/GSK3Ξ² signaling via ITGB3
PMID: 38951640
4
PEX3 mediates peroxisome-dependent metabolic reprogramming in melanoma cells to tolerate MAPK inhibitors
PMID: 37616051
5
Scpep1-mediated PEX3 degradation impairs mitochondrial bioenergetics and worsens myocardial infarction outcomes
PMID: 39932164
Disease Associationsβ“˜23
Zellweger syndromeOpen Targets
0.83Strong
peroxisome biogenesis disorder 10A (Zellweger)Open Targets
0.78Strong
peroxisome biogenesis disorderOpen Targets
0.70Strong
Peroxisome biogenesis disorder-Zellweger syndrome spectrumOpen Targets
0.66Moderate
peroxisome biogenesis disorder 1A (Zellweger)Open Targets
0.53Moderate
neurodegenerative diseaseOpen Targets
0.50Moderate
Zellweger spectrum disordersOpen Targets
0.37Weak
peroxisome biogenesis disorder 1BOpen Targets
0.37Weak
placenta praeviaOpen Targets
0.30Weak
Abnormality of the skeletal systemOpen Targets
0.25Weak
schizophreniaOpen Targets
0.21Weak
Inguinal herniaOpen Targets
0.21Weak
genetic disorderOpen Targets
0.19Weak
aortic atherosclerosisOpen Targets
0.18Weak
Pancreatic pseudocystOpen Targets
0.18Weak
Hernia of the abdominal wallOpen Targets
0.16Weak
HerniaOpen Targets
0.15Weak
hypertensionOpen Targets
0.14Weak
neuropathyOpen Targets
0.14Weak
optic neuritisOpen Targets
0.14Weak
Peroxisome biogenesis disorder 10AUniProt
Peroxisome biogenesis disorder 10BUniProt
Peroxisome biogenesis disorder complementation group 12UniProt
Pathogenic Variants36
NM_003630.3(PEX3):c.292_302del (p.Ser98fs)Pathogenic
Peroxisome biogenesis disorder 10A (Zellweger)|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 98
NM_003630.3(PEX3):c.288-1G>APathogenic
not provided|PEX3-related disorder|Peroxisome biogenesis disorder 10A (Zellweger)
β˜…β˜…β˜†β˜†2024
NM_003630.3(PEX3):c.856C>T (p.Arg286Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 286
NM_003630.3(PEX3):c.17G>A (p.Trp6Ter)Pathogenic
not provided|Peroxisome biogenesis disorder
β˜…β˜…β˜†β˜†2023β†’ Residue 6
NM_003630.3(PEX3):c.206-2A>GLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_003630.3(PEX3):c.766C>T (p.Arg256Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 256
NM_003630.3(PEX3):c.332-1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_003630.3(PEX3):c.863_864insAT (p.Phe288fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 288
NM_003630.3(PEX3):c.1039G>T (p.Asp347Tyr)Likely pathogenic
Peroxisome biogenesis disorder
β˜…β˜†β˜†β˜†2025β†’ Residue 347
NM_003630.3(PEX3):c.699_700dup (p.Leu234fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 234
NM_003630.3(PEX3):c.203_204dup (p.Val69fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 69
NM_003630.3(PEX3):c.157C>T (p.Arg53Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 53
NM_003630.3(PEX3):c.160C>T (p.Arg54Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 54
NM_003630.3(PEX3):c.284dup (p.Asn95fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 95
NM_003630.3(PEX3):c.523+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_003630.3(PEX3):c.494T>G (p.Leu165Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 165
NM_003630.3(PEX3):c.74G>T (p.Gly25Val)Likely pathogenic
Peroxisome biogenesis disorder 10A (Zellweger)
β˜…β˜†β˜†β˜†2024β†’ Residue 25
NM_003630.3(PEX3):c.115_116del (p.Glu39fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 39
NM_003630.3(PEX3):c.-4_12del (p.Met1fs)Likely pathogenic
Peroxisome biogenesis disorder 10A (Zellweger);Peroxisome biogenesis disorder 10B
β˜…β˜†β˜†β˜†2024β†’ Residue 1
NM_003630.3(PEX3):c.735del (p.Pro245_Leu246insTer)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 245
View on ClinVar β†—
Related Genes
PEX6Protein interaction100%PEX10Protein interaction100%PEX2Protein interaction100%PEX5Protein interaction100%APOBProtein interaction99%APOA1Protein interaction99%
Tissue Expression6 tissues
Heart
100%
Liver
75%
Ovary
38%
Brain
37%
Lung
25%
Bone Marrow
25%
Gene Interaction Network
Click a node to explore
PEX3PEX6PEX10PEX2PEX5APOBAPOA1
PROTEIN STRUCTURE
Preparing viewer…
PDB3MK4 Β· 2.42 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.97LoF Tolerant
pLIβ“˜
0.12Tolerant
Observed/Expected LoF0.49 [0.27–0.97]
RankingsWhere PEX3 stands among ~20K protein-coding genes
  • #5,815of 20,598
    Most Researched82
  • #1,649of 5,498
    Most Pathogenic Variants36
  • #9,231of 17,882
    Most Constrained (LOEUF)0.97
Genes detectedPEX3
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Scpep1 inhibition attenuates myocardial infarction-induced dysfunction by improving mitochondrial bioenergetics.
PMID: 39932164
Eur Heart J Β· 2025
1.00
2
Organelle-specific autophagy in inflammatory diseases: a potential therapeutic target underlying the quality control of multiple organelles.
PMID: 32048886
Autophagy Β· 2021
0.90
3
Peroxisome disruption alters lipid metabolism and potentiates antitumor response with MAPK-targeted therapy in melanoma.
PMID: 37616051
J Clin Invest Β· 2023
0.80
4
Systematic discovery of protein interaction interfaces using AlphaFold and experimental validation.
PMID: 38225382
Mol Syst Biol Β· 2024
0.70
5
PMID: 20301621
0.60