| Gene Symbol | ent-gene-a90f5952 |
| VPS35 (Vacuolar Protein Sorting 35) | The 796-amino acid scaffold protein that forms the central core of the complex |
| VPS26 (VPS26A/VPS26B) | A subunit that recognizes cargo proteins through specific recognition motifs |
| VPS29 | A subunit that coordinates the assembly and function of the complex |
| Amyloid precursor protein (APP) | Central to Alzheimer's disease pathogenesis |
| Dopamine transporter (DAT) | Essential for dopamine reuptake |
| TREM2 | Microglial receptor involved in amyloid clearance |
| LRRK2 | Leucine-rich repeat kinase 2, another PD-associated protein |
| Inheritance | Autosomal dominant |
| Penetrance | High (near complete by age 80) |
| Age of onset | Typically 50-65 years |
| Clinical phenotype | Indistinguishable from idiopathic PD |
| Response to levodopa | Generally good |
| Endosomal cargo accumulation | Accumulation of undigested materials within swollen endosomes |
| Lysosomal enzyme misrouting | Impaired delivery of hydrolytic enzymes to lysosomes |
| Autophagic dysfunction | Disrupted protein clearance through the autophagy-lysosome pathway |
| KG Connections | 7 knowledge graph edges |
| Databases | GeneCardsUniProtNCBI GeneHPASTRING |
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