Entity Detail — Knowledge Graph Node
This page aggregates everything SciDEX knows about PEX13: its mechanistic relationships (Knowledge Graph edges), hypotheses targeting it, analyses mentioning it, and supporting scientific papers. The interactive graph below shows its immediate neighbors. All content is AI-synthesized from peer-reviewed literature.
PEX13 encodes peroxin-13, a critical component of the peroxisomal import machinery essential for peroxisome biogenesis. Mutations cause peroxisome biogenesis disorders with severe neurological manifestations.
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| Gene Symbol | PEX13 |
| Aliases | Peroxin-13 |
| Chromosome | 2p15 |
| Protein Family | SH3 domain-containing proteins, Peroxin family |
| Function | Cargo recognition: PEX5 recognizes proteins containing the PTS1 signal (SKL motif or variant) in the cytosol. |
| Molecular Weight | 54 kDa |
| Amino Acids | 489 aa |
| UniProt ID | Q9UKJ0 |
| GeneCards | PEX13 |
| Human Protein Atlas | PEX13 |
| 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 |
| Associated Diseases | neurodegeneration |
| KG Connections | 8 knowledge graph edges |
| Databases | GeneCardsNCBI GeneHPASTRING |
Knowledge base pages for this entity
flowchart TD
N0["PEX13"]
N1["BECN1"]
N1 -->|"targets"| N0
N2["CYP27B1"]
N2 -->|"targets"| N0
N3["GCLC"]
N3 -->|"targets"| N0
N4["PCBP2"]
N4 -->|"targets"| N0
N5["PPP1CA"]
N0 -->|"targets"| N5
N6["VPS29"]
N0 -->|"targets"| N6
N7["VPS35"]
N0 -->|"targets"| N7
N8["YBX1"]
N0 -->|"targets"| N8
N9["neurodegeneration"]
N0 -->|"implicated in"| N9
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class N0 gene
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class N8 geneHypotheses where this entity is a therapeutic target
| Hypothesis | Score | Disease | Analysis |
|---|---|---|---|
| No targeting hypotheses | |||
Scientific analyses that reference this entity
No analyses mention this entity
Experimental studies targeting or related to this entity
| Experiment | Type | Disease | Score | Feasibility | Model | Status | Est. Cost |
|---|---|---|---|---|---|---|---|
| No experiments found | |||||||
Scientific publications cited in analyses involving this entity
| Title & PMID | Authors | Journal | Year | Citations |
|---|---|---|---|---|
| No papers found | ||||
Multi-agent debates referencing this entity
No debates reference this entity
Hypotheses and analyses mentioning PEX13 in their description or question text
No additional research found