Entity Detail — Knowledge Graph Node
This page aggregates everything SciDEX knows about SPG48: 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.
| Gene Symbol | SPG48 |
| Full Name | Spastic Paraplegia 48 (AP5Z1) |
| Chromosome | 7p22.1 |
| Protein Type | Adaptor Protein |
| Function | is a member of the adaptor protein (AP) family involved in intracellular vesicle trafficking, particularly in the endolysosomal system. |
| Primary Expression | Ubiquitous, high in brain |
| Subcellular Localization | AP5Z1 and the AP-5 complex localize primarily to: |
| UniProt ID | [Q9D7B6](https://www.uniprot.org/uniprotkb/Q9D7B6/entry) |
| GeneCards | SPG48 |
| Human Protein Atlas | SPG48 |
| Associated Diseases | neurodegeneration |
| Databases | GeneCardsNCBI GeneHPASTRING |
Knowledge base pages for this entity
graph TD
SPG48["SPG48"]
neurodegeneration["neurodegeneration"]
SPG48 -->|"implicated_in"| neurodegeneration
style SPG48 fill:#4a1a6b,stroke:#4fc3f7,stroke-width:2px,color:#e0e0e0| Target | Relation | Type | Str |
|---|---|---|---|
| No outgoing edges | |||
| Source | Relation | Type | Str |
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| No incoming edges | |||
Hypotheses where this entity is a therapeutic target
| Hypothesis | Score | Disease | Analysis |
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| 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