| Gene Symbol | ent-gene-36279336 |
| Risk Gene | SYNJ1 - Synaptojanin 1 |
| Variants | R258Q, G517D, Y888C, R840Q, A1352T |
| Mechanism | Loss-of-function → impaired phosphoinositide metabolism → defective clathrin-mediated endocytosis → synaptic vesicle recycling failure |
| Therapeutic Target | SYNJ1 expression, phosphoinositide homeostasis |
| Drug Candidates | AAV-SYNJ1 gene therapy, phosphoinositide modulators |
| Status | Preclinical; gene therapy approaches in development |
| KG Connections | 2 knowledge graph edges |
| Databases | GeneCardsUniProtNCBI GeneHPASTRING |