| Gene Symbol | ent-gene-5a840331 |
| Function | - GBA mutations cause reduced glucocerebrosidase activity |
| Ion selectivity | K+ selective over Na+ and Cl- |
| Activation | Proton-activated, sensing lumen pH |
| Voltage dependence | Opens at positive lumenal potentials |
| Location | Primarily lysosomal and late endosomal membranes |
| rs6593389 (p.Q65P) | Associated with ~1.4-fold increased risk per allele[@gregg2018] |
| rs34311866 | Additional risk variant in East Asian populations |
| KG Connections | 2 knowledge graph edges |
| Databases | GeneCardsUniProtNCBI GeneHPASTRING |
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