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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.
PEX19
peroxisomal biogenesis factor 19
Chromosome 1 Β· 1q23.2
NCBI Gene: 5824Ensembl: ENSG00000162735.20HGNC: HGNC:9713UniProt: A0A0S2Z497
126PubMed Papers
22Diseases
0Drugs
25Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingcytoplasmperoxisomecytosolZellweger syndromeperoxisome biogenesis disorder 12A (Zellweger)peroxisome biogenesis disorderPeroxisome biogenesis disorder-Zellweger syndrome spectrum
✦AI Summary

PEX19 is a cytosolic chaperone and import receptor essential for early peroxisomal biogenesis 1. It binds and stabilizes newly synthesized peroxisomal membrane proteins (PMPs) through interactions with their hydrophobic domains, then targets them to the peroxisome by binding the integral membrane protein PEX3 2. This PEX3-PEX19 interaction occurs primarily at the peroxisomal membrane and is critical for import-competent peroxisome formation 2. Beyond peroxisomal targeting, PEX19 facilitates sorting of membrane proteins to other organelles including endoplasmic reticulum, lipid droplets, and mitochondria 3. Additionally, PEX19 regulates pexophagy by recruiting the ubiquitin ligase MARCH5 to peroxisomes 4, and mediates antiviral responses by suppressing influenza A virus replication through peroxisomal MAVS-mediated interferon signaling 1. Pathologically, mutations in PEX19 cause peroxisome biogenesis disorder complementation group 14, with rare nonsense mutations identified in Zellweger spectrum disorder, presenting with neurological dysfunction, hypotonia, and craniofacial abnormalities 5. Clinically, inhibiting the PEX3-PEX19 interaction combined with other targeted approaches shows promise in melanoma therapy resistance models 6.

Sources cited
1
PEX19 is necessary for early peroxisomal biogenesis and suppresses virus replication
PMID: 39205283
2
PEX3-PEX19 interaction occurs at the peroxisomal membrane and is essential for peroxisome biogenesis
PMID: 12924628
3
PEX19 facilitates sorting of membrane proteins to multiple organelles including ER, lipid droplets, and mitochondria
PMID: 30776093
4
PEX19 recruits MARCH5 ubiquitin ligase to peroxisomes to regulate pexophagy
PMID: 34747980
5
PEX19 mutations cause peroxisome biogenesis disorder with neurological dysfunction and craniofacial abnormalities
PMID: 39757991
6
PEX3-PEX19 interaction inhibition combined with other therapies shows antitumor activity in melanoma models
PMID: 37616051
Disease Associationsβ“˜22
Zellweger syndromeOpen Targets
0.79Strong
peroxisome biogenesis disorder 12A (Zellweger)Open Targets
0.76Strong
peroxisome biogenesis disorderOpen Targets
0.68Moderate
Peroxisome biogenesis disorder-Zellweger syndrome spectrumOpen Targets
0.66Moderate
neurodegenerative diseaseOpen Targets
0.50Moderate
Zellweger spectrum disordersOpen Targets
0.45Moderate
genetic disorderOpen Targets
0.41Moderate
peroxisome biogenesis disorder 1A (Zellweger)Open Targets
0.41Moderate
dengue diseaseOpen Targets
0.37Weak
lysosomal storage diseaseOpen Targets
0.37Weak
peroxisome biogenesis disorder 1BOpen Targets
0.37Weak
peroxisome biogenesis disorder due to PEX19 defectOpen Targets
0.37Weak
Fuchs endothelial corneal dystrophyOpen Targets
0.07Suggestive
Isolated anophthalmia - microphthalmiaOpen Targets
0.06Suggestive
microphthalmiaOpen Targets
0.06Suggestive
congenital hereditary endothelial dystrophy of corneaOpen Targets
0.06Suggestive
isolated microphthalmia 7Open Targets
0.05Suggestive
nanophthalmiaOpen Targets
0.05Suggestive
nanophthalmos 2Open Targets
0.05Suggestive
corneal endothelial dystrophyOpen Targets
0.05Suggestive
Peroxisome biogenesis disorder 12AUniProt
Peroxisome biogenesis disorder complementation group 14UniProt
Pathogenic Variants25
NM_002857.4(PEX19):c.161C>T (p.Ser54Leu)Pathogenic
Peroxisome biogenesis disorder 12A (Zellweger)|Peroxisome biogenesis disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 54
NM_002857.4(PEX19):c.577A>T (p.Lys193Ter)Pathogenic
Peroxisome biogenesis disorder 12A (Zellweger)
β˜…β˜…β˜†β˜†2025β†’ Residue 193
NM_002857.4(PEX19):c.281T>A (p.Leu94Ter)Likely pathogenic
Peroxisome biogenesis disorder 12A (Zellweger)|Zellweger spectrum disorders
β˜…β˜…β˜†β˜†2023β†’ Residue 94
NM_002857.4(PEX19):c.346+2T>CLikely pathogenic
Peroxisome biogenesis disorder 12A (Zellweger)
β˜…β˜†β˜†β˜†2025
NM_002857.4(PEX19):c.430C>T (p.Gln144Ter)Pathogenic
Peroxisome biogenesis disorder 12A (Zellweger)
β˜…β˜†β˜†β˜†2025β†’ Residue 144
NM_002857.4(PEX19):c.86del (p.Phe29fs)Pathogenic
Peroxisome biogenesis disorder 12A (Zellweger)
β˜…β˜†β˜†β˜†2025β†’ Residue 29
NM_002857.4(PEX19):c.326C>G (p.Ser109Ter)Pathogenic
Peroxisome biogenesis disorder 12A (Zellweger)
β˜…β˜†β˜†β˜†2025β†’ Residue 109
NM_002857.4(PEX19):c.496del (p.Asp166fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 166
NM_002857.4(PEX19):c.816+5G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_002857.4(PEX19):c.262del (p.Glu88fs)Pathogenic
Peroxisome biogenesis disorder 12A (Zellweger)
β˜…β˜†β˜†β˜†2024β†’ Residue 88
NM_002857.4(PEX19):c.181-1G>ALikely pathogenic
Peroxisome biogenesis disorder 12A (Zellweger)
β˜…β˜†β˜†β˜†2024
NM_002857.4(PEX19):c.397_400del (p.Leu133fs)Likely pathogenic
Peroxisome biogenesis disorder 12A (Zellweger)
β˜…β˜†β˜†β˜†2024β†’ Residue 133
NM_002857.4(PEX19):c.606del (p.Trp202fs)Likely pathogenic
Zellweger spectrum disorders
β˜…β˜†β˜†β˜†2024β†’ Residue 202
NM_002857.4(PEX19):c.594+1G>CLikely pathogenic
Peroxisome biogenesis disorder 12A (Zellweger)
β˜…β˜†β˜†β˜†2024
NM_002857.4(PEX19):c.526C>T (p.Gln176Ter)Pathogenic
Peroxisome biogenesis disorder 12A (Zellweger)
β˜…β˜†β˜†β˜†2023β†’ Residue 176
NM_002857.4(PEX19):c.294del (p.Glu98fs)Pathogenic
Peroxisome biogenesis disorder 12A (Zellweger)
β˜…β˜†β˜†β˜†2022β†’ Residue 98
NM_002857.4(PEX19):c.9del (p.Ala4fs)Pathogenic
Peroxisome biogenesis disorder 12A (Zellweger)
β˜…β˜†β˜†β˜†2022β†’ Residue 4
NM_002857.4(PEX19):c.346+1G>ALikely pathogenic
Peroxisome biogenesis disorder 12A (Zellweger)
β˜…β˜†β˜†β˜†2022
NM_002857.4(PEX19):c.70+2T>GLikely pathogenic
Peroxisome biogenesis disorder 12A (Zellweger)
β˜…β˜†β˜†β˜†2022
NM_002857.4(PEX19):c.181-2A>GLikely pathogenic
Peroxisome biogenesis disorder 12A (Zellweger)
β˜…β˜†β˜†β˜†2022
View on ClinVar β†—
Related Genes
GNPATProtein interaction100%ABCD3Protein interaction98%CCT4Protein interaction96%ABCD1Protein interaction95%ABCD2Protein interaction95%PEX13Protein interaction95%
Tissue Expression6 tissues
Liver
100%
Brain
91%
Heart
83%
Ovary
54%
Lung
42%
Bone Marrow
27%
Gene Interaction Network
Click a node to explore
PEX19GNPATABCD3CCT4ABCD1ABCD2PEX13
PROTEIN STRUCTURE
Preparing viewer…
PDB2WL8 Β· 2.05 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.07LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.78 [0.58–1.07]
RankingsWhere PEX19 stands among ~20K protein-coding genes
  • #3,738of 20,598
    Most Researched126 Β· top quartile
  • #1,975of 5,498
    Most Pathogenic Variants25
  • #10,746of 17,882
    Most Constrained (LOEUF)1.07
Genes detectedPEX19
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
PMID: 20301621
1.00
2
Peroxisome disruption alters lipid metabolism and potentiates antitumor response with MAPK-targeted therapy in melanoma.
PMID: 37616051
J Clin Invest Β· 2023
0.90
3
Systematic discovery of protein interaction interfaces using AlphaFold and experimental validation.
PMID: 38225382
Mol Syst Biol Β· 2024
0.80
4
Zellweger syndrome; identification of mutations in
PMID: 39757991
Ann Med Β· 2025
0.70
5
Ubiquitin ligase MARCH5 localizes to peroxisomes to regulate pexophagy.
PMID: 34747980
J Cell Biol Β· 2022
0.60