| Gene Symbol | ent-gene-9f063e98 |
| G2019S | Most common gain-of-function mutation (~5-6% familial PD, ~1-2% sporadic PD) |
| R1441C/G/H | Affects the ROC GTPase domain |
| Y1699C | Affects the COR domain |
| I2020T | Located in the kinase domain |
| Impaired mitophagy | Defective clearance of damaged mitochondria |
| Increased mitochondrial fragmentation | Altered mitochondrial dynamics |
| Reduced ATP production | Compromised oxidative phosphorylation |
| Alpha-synuclein accumulation | Increased aggregation propensity |
| Phospho-alpha-synuclein | Elevated levels of pathogenic Ser129 phosphorylation |
| Lysosomal dysfunction | Reduced clearance of protein aggregates |
| Oxidative stress | Increased reactive oxygen species (ROS) |
| Endoplasmic reticulum stress | Upregulation of unfolded protein response |
| Neuroinflammation | Elevated inflammatory markers when co-cultured with microglia |
| Reduced dopamine release | Impaired synaptic vesicle cycling |
| Altered neuronal connectivity | Reduced neurite complexity |
| KG Connections | 22 knowledge graph edges |
| Databases | GeneCardsUniProtNCBI GeneHPASTRING |
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