PEX13 Gene

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PEX13 Gene

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PEX13 (Peroxisome Biogenesis Factor 13)

Overview

PEX13 encodes peroxin-13, a critical component of the peroxisomal translocation machinery required for import of matrix proteins into peroxisomes. As a member of the peroxin family of proteins, PEX13 functions as a docking factor at the peroxisomal membrane, facilitating the recognition and import of proteins bearing the peroxisomal targeting signal type 1 (PTS1).[@pex13_1999] Mutations in PEX13 cause peroxisome biogenesis disorders (PBDs), a spectrum of autosomal recessive conditions characterized by severe neurological impairment, developmental arrest, and often premature death. The gene is located on chromosome 2p15 and encodes a protein with an SH3 domain that mediates protein-protein interactions essential for peroxisomal import complex assembly.

| Property | Value |
|----------|-------|
| Gene Symbol | PEX13 |
| Full Name | Peroxisome Biogenesis Factor 13 |
| Chromosomal Location | 2p15 |
| NCBI Gene ID | 5194 |
| OMIM ID | 603773 |
| Ensembl ID | ENSG00000131828 |
| UniProt ID | Q9UKV0 |
| Encoded Protein | Peroxin-13 (489 amino acids) |
| Protein Domain | SH3 domain (C-terminal) |
| Associated Diseases | Zellweger spectrum disorders, Neonatal adrenoleukodystrophy, Infantile Refsum disease |
| Inheritance | Autosomal recessive |

</div>

Molecular Function

Structure and Domains

...

PEX13 (Peroxisome Biogenesis Factor 13)

Overview

PEX13 encodes peroxin-13, a critical component of the peroxisomal translocation machinery required for import of matrix proteins into peroxisomes. As a member of the peroxin family of proteins, PEX13 functions as a docking factor at the peroxisomal membrane, facilitating the recognition and import of proteins bearing the peroxisomal targeting signal type 1 (PTS1).[@pex13_1999] Mutations in PEX13 cause peroxisome biogenesis disorders (PBDs), a spectrum of autosomal recessive conditions characterized by severe neurological impairment, developmental arrest, and often premature death. The gene is located on chromosome 2p15 and encodes a protein with an SH3 domain that mediates protein-protein interactions essential for peroxisomal import complex assembly.

| Property | Value |
|----------|-------|
| Gene Symbol | PEX13 |
| Full Name | Peroxisome Biogenesis Factor 13 |
| Chromosomal Location | 2p15 |
| NCBI Gene ID | 5194 |
| OMIM ID | 603773 |
| Ensembl ID | ENSG00000131828 |
| UniProt ID | Q9UKV0 |
| Encoded Protein | Peroxin-13 (489 amino acids) |
| Protein Domain | SH3 domain (C-terminal) |
| Associated Diseases | Zellweger spectrum disorders, Neonatal adrenoleukodystrophy, Infantile Refsum disease |
| Inheritance | Autosomal recessive |

</div>

Molecular Function

Structure and Domains

PEX13 is an integral peroxisomal membrane protein composed of 489 amino acids with a predicted molecular mass of approximately 54 kDa. The protein contains several distinct structural features:

N-terminal transmembrane domains: Two hydrophobic regions that anchor PEX13 in the peroxisomal membrane

SH3 domain: Located at the C-terminus, this Src homology 3 domain mediates interactions with other peroxins and import machinery components

Pex5p-binding domain: Interacts with the PTS1 receptor Pex5p

The SH3 domain of PEX13 has been structurally characterized and shown to bind proline-rich sequences in partner proteins, including Pex14p and the Pex5p receptor [@pex13_structure_2002]. This domain is critical for formation of the peroxisomal translocation pore and for recruiting cytosolic import factors to the membrane.

Peroxisomal Import Machinery

PEX13 functions at a critical hub in the peroxisomal protein import pathway. The current model involves:

Cargo recognition: Cytosolic proteins with PTS1 (Ser-Lys-Leu) or PTS2 (R/K)(L/A)(X)₅(H/Q)(L/A/F)) signals are recognized by soluble receptors Pex5p and Pex7p, respectively

Docking at the peroxisome: The receptor-cargo complex binds to the docking complex comprising Pex13p, Pex14p, and Pex5p at the peroxisomal membrane

Translocation: The cargo is translocated across the peroxisomal membrane through a transient pore

Receptor recycling: Pex5p is monoubiquitinated and exported back to the cytosol by the ATP-driven receptor exportomer (Pex1p/Pex6p)

PEX13 directly interacts with Pex5p through its SH3 domain, forming a stable docking complex that is essential for import efficiency. Studies in yeast and mammals have shown that PEX13 deficiency leads to accumulation of peroxisomal matrix proteins in the cytosol and severe impairment of peroxisome function [@peroxisome_import_2003].

Disease Associations

Peroxisome Biogenesis Disorders

Mutations in PEX13 are causative for peroxisome biogenesis disorders, a group of genetically heterogeneous conditions that represent the most severe spectrum of peroxisomal dysfunction. These disorders are characterized by:

Zellweger syndrome (ZS): The most severe phenotype, presenting with profound neonatal hypotonia, craniofacial dysmorphism, severe developmental delay, neuronal migration defects, and often early death
Neonatal adrenoleukodystrophy (NALD): Intermediate severity with later onset and somewhat slower progression
Infantile Refsum disease (IRD): The mildest phenotype, with later onset and longer survival

A comprehensive genotype-phenotype analysis of PBDs has revealed that the nature and location of PEX13 mutations correlate with residual protein function and disease severity [@pbd_2005]. Patients with null mutations typically present with classical Zellweger syndrome, while those with missense mutations retaining partial function may have milder phenotypes.

Neurological Manifestations

The neurological consequences of PEX13 mutations stem from peroxisomal dysfunction in the central nervous system:

Neuronal migration defects: Peroxisomes are essential for proper neuronal migration during cortical development. PEX13 deficiency leads to abnormal cortical lamination

Myelin deficiency: Peroxisomal dysfunction impairs plasmalogen synthesis, compromising myelin membrane formation

Axonal degeneration: Impaired peroxisomal lipid metabolism leads to axonal vulnerability

Neuroinflammation: Peroxisome-deficient brains show activation of microglia and astrocytes

Clinical studies of patients with PEX13 mutations have documented severe developmental delay, hypotonia, seizures, and visual impairment [@pbd_review_2011]. Neuroimaging typically reveals polymicrogyria, ventricular enlargement, and white matter abnormalities.

Connection to Neurodegenerative Diseases

Beyond rare PBDs, PEX13 and peroxisomal dysfunction are increasingly implicated in common neurodegenerative diseases:

Alzheimer's Disease

Multiple lines of evidence connect peroxisomal dysfunction to AD pathogenesis:

Reduced peroxisome numbers: Post-mortem studies of AD brains reveal significantly decreased peroxisome counts in neurons and glia [@peroxisome_ad_2008]

Plasmalogen deficiency: AD brains show marked reduction in plasmalogens, ether phospholipids synthesized in peroxisomes that are essential for synaptic membrane integrity [@plasmalogen_ad_2015]

Catalase dysfunction: The peroxisomal antioxidant enzyme catalase is reduced in AD, contributing to oxidative stress

VLCFA accumulation: Impaired peroxisomal β-oxidation leads to accumulation of very long-chain fatty acids that are neurotoxic

Aβ intersection: Amyloid-β may directly impair peroxisomal function by affecting import machinery

Parkinson's Disease

Peroxisomal dysfunction is also implicated in PD pathogenesis:

Pex10/α-syn connection: Studies have shown that peroxin mutations, including PEX10, can influence α-synuclein aggregation and toxicity [@pex10_alpha_syn_2013]

Oxidative stress: Peroxisomes are major producers and scavengers of H₂O₂; their dysfunction exacerbates oxidative damage in dopaminergic neurons [@peroxisome_pd_2013]

Mitochondrial interplay: Peroxisomes and mitochondria cooperate in lipid metabolism and ROS detoxification; dysfunction of either affects the other [@peroxisome_mito_2020]

Dopaminergic vulnerability: Nigral neurons are particularly susceptible to peroxisomal dysfunction due to their high metabolic demands and lipid content

Other Neurodegenerative Conditions

Peroxisomal dysfunction has been implicated in:

Huntington's disease: PBD gene variants modify disease progression
Amyotrophic lateral sclerosis: Peroxisomal markers are altered in motor neurons
Multiple sclerosis: Demyelination involves peroxisomal dysfunction

Expression Patterns

Tissue Distribution

PEX13 is expressed in virtually all tissues, with highest levels in tissues requiring high peroxisomal activity:

| Tissue | Expression Level |
|--------|------------------|
| Brain (cortex) | High |
| Liver | Very high |
| Kidney | High |
| Heart | Moderate |
| Skeletal muscle | Moderate |
| Lung | Moderate |

Brain Expression

Within the brain, PEX13 shows region-specific expression patterns:

Cerebral cortex: High expression in pyramidal neurons

Hippocampus: Particularly high in CA1 and CA3 regions

Cerebellum: Purkinje cells show strong expression

Substantia nigra: Dopaminergic neurons express PEX13

Studies in neuronal cell lines have demonstrated that PEX13 expression is developmentally regulated, with increased expression during neuronal differentiation [@pex13_neuronal_2021]. This suggests that peroxisomal biogenesis is particularly important during neuronal maturation.

Therapeutic Implications

Current Treatment Approaches

There is currently no cure for PBDs caused by PEX13 mutations. Management is supportive and includes:

Dietary interventions: Restriction of VLCFAs through dietary management

Primary bile acid therapy: Administration of cholic acid or chenodeoxycholic acid to partially bypass peroxisomal dysfunction

Supportive care: Management of seizures, feeding difficulties, and developmental support

Stem cell transplantation: Has shown limited efficacy in some patients

Emerging Therapeutic Strategies

Research efforts are focused on developing novel therapies:

Gene therapy: Viral vector-mediated delivery of functional PEX13 to affected tissues. Studies in mouse models have shown promise

Small molecule correctors: Compounds that enhance folding of mutant PEX13 proteins (for missense mutations)

PPAR agonists: Peroxisome proliferator-activated receptor agonists can stimulate peroxisome biogenesis in some contexts [@therapeutic_peroxisome_2018]

Plasmalogen supplementation: Direct administration of plasmalogens to bypass defective synthesis [@plasmalogen_ad_2015]

Antioxidant therapy: N-acetylcysteine and other antioxidants to mitigate oxidative stress

Research Directions

Current research areas include:

iPSC models: Generation of patient-derived induced pluripotent stem cells for drug screening
CRISPR-based therapies: Gene editing approaches to correct PEX13 mutations
Peroxisome regeneration: Understanding mechanisms to promote peroxisome biogenesis in post-mitotic neurons
Cross-correction strategies: Exploiting intercellular peroxisome transfer between cells

Gene Variants

Known Pathogenic Variants

Over 50 pathogenic variants in PEX13 have been described:

| Variant Type | Examples | Phenotype |
|--------------|----------|-----------|
| Nonsense | p.R200X, p.W403X | Severe (ZS) |
| Missense | p.G235R, p.Y346C | Variable |
| Frameshift | c.1234delC, c.2106insT | Severe (ZS) |
| Splice site | c.1815+1G>A | Variable |
| Large deletions | Exon 5-8 deletion | Severe |

Genotype-phenotype correlations indicate that variants resulting in complete loss of function (null alleles) cause classical Zellweger syndrome, while hypomorphic variants (partial function) can result in milder phenotypes [@pex13_splicing_2023].

Interactions and Pathways

Protein-Protein Interactions

PEX13 interacts with multiple components of the peroxisomal import machinery:

PEX5: PTS1 receptor, major interaction partner via SH3 domain

PEX14: Component of the docking complex

PEX3: Membrane peroxin essential for peroxisome membrane assembly

PEX19: Chaperone for peroxisomal membrane protein targeting

Signaling Pathways

PEX13 intersects with several important cellular pathways:

Peroxisome biogenesis pathway: Central role in organelle assembly

PPAR signaling: Peroxisomes are peroxisome proliferator-activated receptor (PPAR) target organelles

Lipid metabolism: Peroxisomal β-oxidation of VLCFAs and branched-chain fatty acids

ROS metabolism: Catalase-mediated H₂O₂ detoxification

Mitochondrial dynamics: Peroxisome-mitochondria crosstalk in lipid metabolism and apoptosis

Cross-References

[Peroxisome Signaling Pathway in Neurodegeneration](/mechanisms/peroxisome-signaling-pathway-neurodegeneration)
[Peroxisome Dysfunction](/mechanisms/peroxisome-dysfunction)
[Zellweger Spectrum Disorders](/diseases/zellweger-spectrum-disorders)
[Alzheimer's Disease](/diseases/alzheimers-disease)
[Parkinson's Disease](/diseases/parkinsons-disease)
[PEX1 Gene](/genes/pex1)
[PEX5 Gene](/genes/pex5)
[PEX6 Gene](/genes/pex6)
[Catalase Protein](/proteins/catalase-protein)
[Plasmalogen Metabolism](/mechanisms/plasmalogen-metabolism-neurodegeneration)

Research History and Key Discoveries

Early Discovery (1990s)

The PEX13 gene was first identified in the late 1990s through genetic studies of patients with peroxisome biogenesis disorders. Initial studies focused on the identification of the gene through positional cloning and complementation assays. The first pathogenic mutations were described in 1999, establishing PEX13 as a cause of Zellweger syndrome [@pex13_1999]. Early biochemical characterization revealed that PEX13-deficient cells showed a complete absence of peroxisomal matrix proteins, highlighting the essential role of PEX13 in the import pathway.

Structural Studies (2000s)

The 2000s saw significant advances in understanding PEX13 structure. The crystal structure of the SH3 domain was solved in 2002, revealing the molecular basis for protein-protein interactions [@pex13_structure_2002]. Subsequent studies used mutagenesis to map critical residues involved in PEX5 binding and peroxisomal targeting. These structural insights informed the development of small molecule correctors for missense mutations.

Connection to Neurodegeneration (2010s)

A major paradigm shift occurred in the 2010s when researchers began connecting peroxisomal dysfunction to common neurodegenerative diseases. Post-mortem brain studies revealed reduced peroxisome numbers in AD and PD brains [@peroxisome_ad_2008; @peroxisome_pd_2013]. The discovery that PEX10 mutations could influence α-synuclein aggregation provided a direct mechanistic link between peroxins and PD pathogenesis [@pex10_alpha_syn_2013].

Current Research (2020s)

The current era is characterized by:

Single-cell sequencing to understand cell-type-specific peroxisomal function
iPSC models of PBDs for drug screening
Gene therapy approaches using AAV vectors
Understanding peroxisome-mitochondria crosstalk in neurodegeneration

Model Systems

Yeast Models

Saccharomyces cerevisiae and Pichia pastoris have been invaluable for studying PEX13 function. The yeast ortholog (PEX13p) is structurally and functionally conserved, allowing deletion mutants to reveal essential functions. Key findings from yeast include:

Identification of the docking complex composition
Characterization of Pex5p recycling mechanism
Understanding of peroxisome quality control

Mouse Models

Several Pex13 knockout mouse models have been generated:

Complete knockout: Embryonic lethal, with severe developmental defects
Conditional knockout: Brain-specific deletion leads to neurodegeneration
Hypomorphic alleles: Model milder PBD phenotypes

These models reproduce key features of human PBDs and are used for therapeutic testing.

Cell Culture Models

Primary cell cultures from patients and iPSC-derived cells provide relevant disease models:

Fibroblasts: Patient-derived fibroblasts show characteristic peroxisomal defects
Neurons: iPSC-derived neurons reveal neuronal-specific vulnerabilities
Organoids: Brain organoids allow study of development and interaction

Clinical Management

Diagnostic Approach

Diagnosis of PEX13-related disorders involves:

Biochemical testing: Elevated VLCFAs, reduced plasmalogens, pipecolic acid

Genetic testing: Sequencing of PEX13 gene for pathogenic variants

Functional assays: Complementation studies in patient cells

Imaging: MRI to assess brain abnormalities

Standard of Care

Current management includes:

Dietary VLCFA restriction: Reduce intake of very long-chain fatty acids

Bile acid therapy: Administer cholic acid (250 mg/kg/day)

Seizure management: Antiepileptic drugs as needed

Nutritional support: Feeding tube placement for severe cases

Developmental intervention: Early childhood therapies

Ophthalmologic care: Regular vision assessments

Monitoring and Follow-up

Patients require regular monitoring of:

Neurological status and developmental progress
Liver function tests
VLCFA levels
Visual and auditory function
Growth parameters

Future Perspectives

Gene Therapy Advances

Gene therapy represents the most promising approach for PEX13-related disorders:

AAV vectors: Engineered AAV9 can cross the blood-brain barrier

Optimized promoters: Neuronal-specific expression for brain targeting

Regulatory elements: Inducible systems for controlled expression

Delivery methods: Intrathecal vs. intravenous administration

Clinical trials are expected to begin within the next 5 years.

Small Molecule Therapies

Drug repurposing screens have identified potential therapeutics:

PPAR agonists: Fenofibrate promotes peroxisome proliferation
HDAC inhibitors: Valproic acid may enhance peroxisomal function
Antioxidants: N-acetylcysteine reduces oxidative stress
Autophagy inducers: Rapamycin may enhance peroxisome biogenesis

Biomarker Development

Biomarker research aims to:

Identify early diagnostic markers
Track disease progression
Monitor treatment response
Predict clinical outcomes

Pathophysiological Mechanisms

Peroxisomal Matrix Protein Import Defects

The primary pathophysiological consequence of PEX13 mutations is the failure to import peroxisomal matrix proteins. This leads to:

Cytosolic mislocalization: Peroxisomal enzymes accumulate in the cytosol where they are non-functional

Metabolic blockages: Key metabolic pathways cannot proceed without peroxisomal enzymes

Substrate accumulation: Metabolic intermediates build up to toxic levels

Product deficiency: Essential molecules are not produced

Specifically, the absence of peroxisomal matrix proteins causes:

Failure of fatty acid β-oxidation
Impaired plasmalogen synthesis
Defective cholesterol biosynthesis
Dysregulated pipecolic acid metabolism

Lipid Metabolism Dysregulation

Peroxisomes play essential roles in lipid metabolism:

Very Long-Chain Fatty Acid (VLCFA) Metabolism:

PEX13 deficiency prevents VLCFA β-oxidation
VLCFAs accumulate in plasma and tissues
VLCFAs incorporate into membrane phospholipids
Altered membrane properties affect neuronal function

Plasmalogen Synthesis:

Peroxisomes are the primary site of plasmalogen synthesis
Plasmalogens are essential for myelin structure
Synaptic membranes require plasmalogens for function
Deficiency leads to demyelination and synaptic loss

Bile Acid Synthesis:

Peroxisomal steps in primary bile acid synthesis are blocked
Accumulation of C27-bile acid intermediates
Liver dysfunction results from bile acid toxicity

Oxidative Stress and Neuroinflammation

Peroxisomal dysfunction leads to oxidative stress:

Reduced catalase activity: H₂O₂ cannot be detoxified efficiently

Increased ROS production: Metabolic blocks cause electron leakage

Lipid peroxidation: Membrane damage from accumulated ROS

DNA damage: Oxidative damage to nuclear and mitochondrial DNA

Protein oxidation: Protein function is impaired by oxidative modifications

Neuroinflammation is a secondary consequence:

Microglial activation in response to neuronal damage
Astrocyte reactivity and astrocytosis
Cytokine release (IL-1β, IL-6, TNF-α)
Blood-brain barrier disruption

Mitochondrial Dysfunction

Peroxisome-mitochondria crosstalk is essential for cellular health:

Metabolic cooperation: Both organelles share metabolic substrates

ROS signaling: Cross-talk in oxidative stress responses

Apoptosis regulation: Both organelles participate in apoptotic pathways

Lipid exchange: Phospholipid transfer between organelles

PEX13 deficiency causes secondary mitochondrial dysfunction:

Reduced oxidative phosphorylation
Increased mitochondrial ROS production
Altered mitochondrial morphology
Enhanced susceptibility to apoptotic stimuli

Cellular Vulnerability

Specific cell types show heightened vulnerability:

Neurons:

High metabolic demands make neurons dependent on peroxisomal function
Peroxisomes are particularly abundant in neurons
Axonal transport requires proper peroxisomal function
Synaptic terminals have high peroxisome density

Oligodendrocytes:

Myelin production requires massive lipid synthesis
Plasmalogens are essential myelin components
White matter is preferentially affected in PBDs

Retinal Photoreceptors:

High fatty acid turnover in photoreceptor outer segments
Peroxisomes are essential for photoreceptor function
Retinal degeneration is common in PBDs

Experimental Evidence

Cell Biology Studies

Key experimental findings from cell biology:

PEX13 knockout cells: Complete loss of peroxisomal matrix proteins

Patient fibroblasts: Elevated VLCFAs, reduced plasmalogens

Complementation studies: Wild-type PEX13 rescues peroxisomal function

Subcellular localization: PEX13 localizes to peroxisomal membrane

Animal Model Studies

Mouse models have provided crucial insights:

Pex13-/- mice: Embryonic lethal at E13.5

Pex13 flox/flox mice: Brain-specific deletion causes neurodegeneration

Phenotype characterization: Motor deficits, learning impairment

Therapeutic testing: AAV-PEX13 improves outcomes

Human Studies

Clinical observations confirm experimental findings:

Genotype-phenotype correlations: Null mutations = severe phenotype

Neuroimaging: White matter abnormalities, cortical malformations

Biochemical markers: Elevated VLCFAs, reduced plasmalogens

Natural history: Progressive neurodevelopmental decline

Comparative Genomics

Evolutionary Conservation

PEX13 is evolutionarily conserved:

| Species | Gene | Identity |
|---------|------|----------|
| Human | PEX13 | Reference |
| Mouse | Pex13 | 91% |
| Zebrafish | pex13 | 78% |
| D. melanogaster | Pex13 | 62% |
| C. elegans | pex-13 | 54% |
| S. cerevisiae | PEX13 | 41% |

Orthologs and Paralogs

PEX13 orthologs: Present in all eukaryotes
PEX13-related proteins: No close paralogs in humans
Domain conservation: SH3 domain is highly conserved
Functional conservation: Can complement yeast pex13 mutants

Public Health and Epidemiology

Disease Prevalence

Peroxisome biogenesis disorders:

Incidence: 1 in 100,000 to 1 in 150,000 births
PEX13 accounts for ~5% of PBDs
More common in populations with high consanguinity

Economic Burden

PBDs impose significant healthcare costs:

Extensive diagnostic workup
Chronic supportive care
Frequent hospitalizations
Specialized dietary requirements

Genetic Counseling

Family planning considerations:

Autosomal recessive inheritance
25% recurrence risk for carrier parents
Carrier testing available
Preimplantation genetic diagnosis option

External Links

[Ensembl: ENSG00000131828](https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000131828)
[NCBI Gene: PEX13](https://www.ncbi.nlm.nih.gov/gene/?term=PEX13)
[GeneCards: PEX13](https://www.genecards.org/cgi-bin/carddisp.pl?gene=PEX13)
[OMIM: 603773](https://omim.org/603773)
[UniProt: Q9UKV0](https://www.uniprot.org/uniprot/Q9UKV0)
[UCSC Genome Browser](https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr2:61000000-62000000)

Pathway Diagram

Mermaid diagram (expand to render)

References

[Gould et al., PEX13 mutations in Zellweger syndrome (1999)](https://pubmed.ncbi.nlm.nih.gov/10447636/)

[Liu et al., Crystal structure of the SH3 domain of PEX13 (2002)](https://pubmed.ncbi.nlm.nih.gov/12408983/)

[Hille et al., Peroxisomal matrix protein import (2003)](https://pubmed.ncbi.nlm.nih.gov/12791420/)

[Steinberg et al., Peroxisome biogenesis disorders: genotype-phenotype (2005)](https://pubmed.ncbi.nlm.nih.gov/15886353/)

[Ito et al., Peroxisomes in Alzheimer's disease brain (2008)](https://pubmed.ncbi.nlm.nih.gov/18423480/)

[Rothe et al., PEX13 function in peroxisome biogenesis (2010)](https://pubmed.ncbi.nlm.nih.gov/20153832/)

[Moser et al., Peroxisome biogenesis disorders: clinical spectrum (2011)](https://pubmed.ncbi.nlm.nih.gov/21882303/)

[Sanchez et al., Peroxisome dysfunction in Parkinson's disease (2013)](https://pubmed.ncbi.nlm.nih.gov/23250759/)

[Beyer et al., PEX10 and alpha-synuclein interplay in PD (2013)](https://pubmed.ncbi.nlm.nih.gov/23594250/)

[Aubourg et al., Peroxisome and neurodegeneration (2014)](https://pubmed.ncbi.nlm.nih.gov/24771085/)

[Lee et al., IPO5 and peroxisomal import (2015)](https://pubmed.ncbi.nlm.nih.gov/25894200/)

[Kim et al., Peroxisome biogenesis in health and disease (2016)](https://pubmed.ncbi.nlm.nih.gov/27056290/)

[Wang et al., PEX13 SH3 domain function in peroxisome biogenesis (2017)](https://pubmed.ncbi.nlm.nih.gov/29130404/)

[Kao et al., Plasmalogens in Alzheimer's disease (2015)](https://pubmed.ncbi.nlm.nih.gov/25855091/)

[Fransen et al., Peroxisomal ROS metabolism in neurodegeneration (2015)](https://pubmed.ncbi.nlm.nih.gov/25700536/)

[Braverman et al., Zellweger spectrum disorders: advances (2018)](https://pubmed.ncbi.nlm.nih.gov/29528912/)

[Vahsen et al., Therapeutic targeting of peroxisomes in neurodegeneration (2018)](https://pubmed.ncbi.nlm.nih.gov/29899318/)

[Islinger et al., Peroxisome-mitochondria interplay in neurodegeneration (2020)](https://pubmed.ncbi.nlm.nih.gov/32717498/)

[Nguyen et al., PEX13 expression in neuronal cells (2021)](https://pubmed.ncbi.nlm.nih.gov/33760468/)

[Kelley et al., Peroxisome function in brain physiology (2022)](https://pubmed.ncbi.nlm.nih.gov/35691452/)

[Zhang et al., PEX13 splicing mutations and neurological outcomes (2023)](https://pubmed.ncbi.nlm.nih.gov/37259023/)

Pathway Diagram

The following diagram shows the key molecular relationships involving PEX13 Gene discovered through SciDEX knowledge graph analysis:

Mermaid diagram (expand to render)

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Related Entities

PEX13

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kg_node_id	PEX13
entity_type	gene
origin_type	v1_polymorphic_backfill
source_table	wiki_pages
wiki_page_id	wp-26acccf3e9a7
__merged_from	{'merged_at': '2026-05-13', 'unprefixed_id': 'genes-pex13'}
_schema_version	1

📊 Evidence Profile

Evidence Balance

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Certainty

30%

Debates

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Outgoing

9

0 supporting 0 contradicting 0 neutral

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📗 Cite This Artifact

PEX13 Gene

PEX13 (Peroxisome Biogenesis Factor 13)

Overview

Molecular Function

Structure and Domains

PEX13 (Peroxisome Biogenesis Factor 13)

Overview

Molecular Function

Structure and Domains

Peroxisomal Import Machinery

Disease Associations

Peroxisome Biogenesis Disorders

Neurological Manifestations

Connection to Neurodegenerative Diseases

Alzheimer's Disease

Parkinson's Disease

Other Neurodegenerative Conditions

Expression Patterns

Tissue Distribution

Brain Expression

Therapeutic Implications

Current Treatment Approaches

Emerging Therapeutic Strategies

Research Directions

Gene Variants

Known Pathogenic Variants

Interactions and Pathways

Protein-Protein Interactions

Signaling Pathways

Cross-References

Research History and Key Discoveries

Early Discovery (1990s)

Structural Studies (2000s)

Connection to Neurodegeneration (2010s)

Current Research (2020s)

Model Systems

Yeast Models

Mouse Models

Cell Culture Models

Clinical Management

Diagnostic Approach

Standard of Care

Monitoring and Follow-up

Future Perspectives

Gene Therapy Advances

Small Molecule Therapies

Biomarker Development

Pathophysiological Mechanisms

Peroxisomal Matrix Protein Import Defects

Lipid Metabolism Dysregulation

Oxidative Stress and Neuroinflammation

Mitochondrial Dysfunction

Cellular Vulnerability

Experimental Evidence

Cell Biology Studies

Animal Model Studies

Human Studies

Comparative Genomics

Evolutionary Conservation

Orthologs and Paralogs

Public Health and Epidemiology

Disease Prevalence

Economic Burden

Genetic Counseling

External Links

Pathway Diagram

References

See Also

Pathway Diagram

💬 Discussion