| Gene Symbol | ent-gene-694200ea |
| Active site | D237, E235 |
| Mutation Type | Examples |
| Severe (null) | L444P, 84insGG |
| Moderate | N370S, D409H |
| Risk modifiers | E326K, T369M |
| Serotype | Tropism |
| AAV9 | Neurons, astrocytes |
| AAVrh.10 | Neurons |
| AAV-PHP.B | Neurons |
| AAV2 | Neurons |
| Element | Function |
| Promoter | Synapsin (neuron-specific), CAG (strong ubiquitous) |
| Intron | Improves expression stability |
| GBA cDNA | Wild-type glucocerebrosidase |
| PolyA | AAV2 ITR-flanked |
| KG Connections | 2 knowledge graph edges |
| Databases | GeneCardsUniProtNCBI GeneHPASTRING |