Entity Detail — Knowledge Graph Node
This page aggregates everything SciDEX knows about SPAST: 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 | SPAST |
| Protein Type | Enzyme |
| Function | Spastin is a microtubule-severing protein that plays essential roles in |
| Primary Expression | the nervous system: |
| GeneCards | SPAST |
| Human Protein Atlas | SPAST |
| Aspect | Details |
| Inheritance | Autosomal dominant |
| Prevalence | ~40% of all autosomal dominant HSP cases |
| Mutations | Over 200 pathogenic variants identified |
| Mechanism | Loss of function - haploinsufficiency |
| Disease | Relationship |
| Parkinson's Disease | Altered spastin expression in some PD models |
| Alzheimer's Disease | Potential role in microtubule dynamics in AD |
| Charcot-Marie-Tooth Disease | Some overlap with hereditary neuropathies |
| Associated Diseases | ALS, Spastic Paraplegia Type 4, neurodegeneration |
| Interactions | Ubiquitin, HDAC6 |
| KG Connections | 27 knowledge graph edges |
| Databases | GeneCardsUniProtNCBI GeneHPASTRING |
Knowledge base pages for this entity
flowchart TD
N0["SPAST"]
N1["Als"]
N0 -->|"associated with"| N1
N2["ALS"]
N0 -->|"associated with"| N2
N3["COL4A1"]
N0 -->|"associated with"| N3
N4["SATB2"]
N0 -->|"associated with"| N4
N5["ATL1"]
N0 -->|"associated with"| N5
N6["PDHX"]
N0 -->|"associated with"| N6
N7["SLC16A2"]
N0 -->|"associated with"| N7
N8["GNAO1"]
N0 -->|"associated with"| N8
N9["AND"]
N0 -->|"associated with"| N9
N10["Rb"]
N0 -->|"associated with"| N10
N11["GENES"]
N11 -->|"associated with"| N0
N3 -->|"associated with"| N0
N6 -->|"associated with"| N0
N8 -->|"associated with"| N0
classDef gene fill:#1a3a2a,stroke:#4caf50,color:#e0e0e0
classDef protein fill:#1a2a3a,stroke:#4fc3f7,color:#e0e0e0
classDef disease fill:#3a1a1a,stroke:#ef5350,color:#e0e0e0
classDef pathway fill:#2a1a3a,stroke:#ce93d8,color:#e0e0e0
classDef mechanism fill:#2a2a1a,stroke:#ffd54f,color:#e0e0e0
class N1 disease
class N2 disease
class N3 gene
class N4 gene
class N5 gene
class N6 gene
class N7 gene
class N8 gene
class N9 gene
class N10 protein
class N11 gene| Target | Relation | Type | Str |
|---|---|---|---|
| Spastic Paraplegia Type 4 | causes | disease | 0.95 |
| microtubule severing | mediates | process | 0.90 |
| ubiquitin-proteasome system | involved_in | pathway | 0.85 |
| Ubiquitin | interacts_with | protein | 0.85 |
| tubulin acetylation | regulates | phenotype | 0.80 |
| Als | associated_with | disease | 0.65 |
| ALS | associated_with | disease | 0.65 |
| COL4A1 | associated_with | gene | 0.60 |
| SATB2 | associated_with | gene | 0.60 |
| ATL1 | associated_with | gene | 0.60 |
| PDHX | associated_with | gene | 0.60 |
| SLC16A2 | associated_with | gene | 0.60 |
| GNAO1 | associated_with | gene | 0.60 |
| Rb | associated_with | protein | 0.60 |
| neurodegeneration | causes | disease | 0.60 |
| AND | associated_with | gene | 0.60 |
| ubiquitin-proteasome | participates_in | pathway | 0.60 |
| stem cells | expressed_in | cell_type | 0.60 |
Hypotheses 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
Scientific publications cited in analyses involving this entity
| Title & PMID | Authors | Journal | Year | Citations |
|---|---|---|---|---|
| No papers found | ||||