| 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 |