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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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PEX14
peroxisomal biogenesis factor 14
Chromosome 1 Β· 1p36.22
NCBI Gene: 5195Ensembl: ENSG00000142655.14HGNC: HGNC:8856UniProt: O75381
105PubMed Papers
22Diseases
0Drugs
8Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
signaling receptor bindingprotein bindingmicrotubule bindingtransmembrane protein transporter activityZellweger syndromeperoxisome biogenesis disorder 13A (Zellweger)peroxisome biogenesis disorder, complementation group Kperoxisome biogenesis disorder
✦AI Summary

PEX14 is a peroxisomal membrane protein that functions as a critical component of the PEX13-PEX14 docking complex, serving as the initial docking site for the PEX5 receptor during peroxisomal protein import 1. The docking complex forms a large import pore (approximately 9 nm diameter) through which PEX5-bound cargo proteins are translocated into the peroxisome matrix 2. Mechanistically, PEX14 interacts with PEX5 and PEX13 through its N-terminal domain, while its C-terminal domain undergoes phase separation to create condensates that recruit receptor-cargo complexes 3. Beyond import, PEX14 directly binds tubulin and facilitates peroxisome movement along microtubules 4. During de novo peroxisome biogenesis, PEX14 targets mitochondria where it is selectively released into vesicular pre-peroxisomal structures that subsequently mature upon fusion with endoplasmic reticulum-derived vesicles 4. PEX14 also serves as a molecular docking site for optineurin on the peroxisomal membrane, enabling recruitment of autophagic machinery for selective peroxisome degradation (pexophagy) 5. Additionally, Ser232-phosphorylation of PEX14 suppresses catalase import, representing a cellular defense mechanism against oxidative stress 6. Mutations in PEX14 cause peroxisome biogenesis disorder complementation group K, characterized by defective peroxisomal protein import and loss of peroxisome integrity 1.

Sources cited
1
PEX14 is essential for peroxisomal protein import and its mutations cause peroxisome biogenesis disorder complementation group K in humans
PMID: 15146459
2
PEX14 is a major component of the water-filled protein-conducting channel for peroxisomal protein import
PMID: 26497277
3
PEX14 targets mitochondria during de novo peroxisome biogenesis and is selectively released into pre-peroxisomal structures
PMID: 28146471
4
PEX14 C-terminal domain undergoes phase separation and forms condensates that recruit PEX5-cargo complexes
PMID: 40555785
5
PEX14 acts as a docking site for optineurin to mediate pexophagy through recruitment of autophagic machinery
PMID: 41071103
6
Ser232-phosphorylation of PEX14 suppresses catalase import as a cellular defense mechanism against oxidative stress
PMID: 35917894
Disease Associationsβ“˜22
Zellweger syndromeOpen Targets
0.77Strong
peroxisome biogenesis disorder 13A (Zellweger)Open Targets
0.74Strong
peroxisome biogenesis disorder, complementation group KOpen Targets
0.66Moderate
peroxisome biogenesis disorderOpen Targets
0.62Moderate
Peroxisome biogenesis disorder-Zellweger syndrome spectrumOpen Targets
0.62Moderate
breast carcinomaOpen Targets
0.46Moderate
neurodegenerative diseaseOpen Targets
0.45Moderate
prostate carcinomaOpen Targets
0.43Moderate
asthmaOpen Targets
0.42Moderate
peroxisome biogenesis disorder 1A (Zellweger)Open Targets
0.41Moderate
benign prostatic hyperplasiaOpen Targets
0.39Weak
Abnormality of the skeletal systemOpen Targets
0.38Weak
Zellweger spectrum disordersOpen Targets
0.37Weak
lysosomal storage diseaseOpen Targets
0.37Weak
peroxisome biogenesis disorder 11A (Zellweger)Open Targets
0.37Weak
peroxisome biogenesis disorder 1BOpen Targets
0.37Weak
androgenetic alopeciaOpen Targets
0.37Weak
peroxisome biogenesis disorder 4A (Zellweger)Open Targets
0.34Weak
breast cancerOpen Targets
0.32Weak
estrogen-receptor negative breast cancerOpen Targets
0.31Weak
Peroxisome biogenesis disorder 13AUniProt
Peroxisome biogenesis disorder complementation group KUniProt
Pathogenic Variants8
NC_000001.11:g.10599291_10599292insTAAAGCAGCAATAAACTCAAGGATAAATTAAGGAAATTGAATGAGCCACATTTGGAAGCAGTGTTGAGGCTAATATTCTGTCGCTTAAGGTTAAATTGCAACTGAGAGAGGTTCCGGAGAATCTGAAATCGGGGAGGCAACTTACTAGGATGCGAGGCATTCTGTGGCTGTAAAGGTCTTTGCTCAGTGAAGATTCTGTTGCAGCTATGGACACTGACAAAAGGTACTCACCTGCAATGATGTCCTCTTCTCCCCAGGGCTGACAGATGAAGAGATTGATATGGCCTTCCAGCAGTCGGGCACTGCTGCCGPathogenic
Peroxisome biogenesis disorder, complementation group K
β˜…β˜†β˜†β˜†2026
NM_004565.3(PEX14):c.488-1G>APathogenic
Peroxisome biogenesis disorder 4A (Zellweger)
β˜…β˜†β˜†β˜†2025
NM_004565.3(PEX14):c.298+1G>CLikely pathogenic
Peroxisome biogenesis disorder, complementation group K
β˜…β˜†β˜†β˜†2024
NM_004565.3(PEX14):c.109C>T (p.Gln37Ter)Pathogenic
Peroxisome biogenesis disorder, complementation group K
β˜…β˜†β˜†β˜†2024β†’ Residue 37
NM_004565.3(PEX14):c.204_298+125delinsTATTCCTTLikely pathogenic
Peroxisome biogenesis disorder, complementation group K
β˜…β˜†β˜†β˜†2024
NM_004565.3(PEX14):c.299-5_306delLikely pathogenic
Peroxisome biogenesis disorder, complementation group K
β˜…β˜†β˜†β˜†2023
NM_004565.3(PEX14):c.36+1G>TLikely pathogenic
Peroxisome biogenesis disorder, complementation group K
β˜…β˜†β˜†β˜†2022
NM_004565.3(PEX14):c.553C>T (p.Gln185Ter)Pathogenic
Peroxisome biogenesis disorder 13A (Zellweger)
β˜†β˜†β˜†β˜†2004β†’ Residue 185
View on ClinVar β†—
Related Genes
PEX11AProtein interaction100%ABCD3Protein interaction98%ACOX1Protein interaction96%PEX19Protein interaction95%TYSND1Protein interaction85%SCP2Protein interaction83%
Tissue Expression6 tissues
Liver
100%
Heart
54%
Brain
53%
Lung
50%
Ovary
50%
Bone Marrow
28%
Gene Interaction Network
Click a node to explore
PEX14PEX11AABCD3ACOX1PEX19TYSND1SCP2
PROTEIN STRUCTURE
Preparing viewer…
PDB2W84 Β· NMR
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.54Moderately Constrained
pLIβ“˜
0.91Intolerant
Observed/Expected LoF0.35 [0.23–0.54]
RankingsWhere PEX14 stands among ~20K protein-coding genes
  • #4,551of 20,598
    Most Researched105 Β· top quartile
  • #3,053of 5,498
    Most Pathogenic Variants8
  • #3,434of 17,882
    Most Constrained (LOEUF)0.54 Β· top quartile
Genes detectedPEX14
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
PMID: 20301621
1.00
2
Newly born peroxisomes are a hybrid of mitochondrial and ER-derived pre-peroxisomes.
PMID: 28146471
Nature Β· 2017
0.90
3
Molecular insights into peroxisome homeostasis and peroxisome biogenesis disorders.
PMID: 35917894
Biochim Biophys Acta Mol Cell Res Β· 2022
0.80
4
Outer mitochondrial membrane E3Β Ub ligase MARCH5 controls de novo peroxisome biogenesis.
PMID: 39423819
Dev Cell Β· 2025
0.70
5
PEX14 acts as a molecular link between optineurin and the autophagic machinery to induce pexophagy.
PMID: 41071103
J Cell Biol Β· 2025
0.60