| Gene Symbol | ATP6V0A1 |
| Chromosome | 17q21.31 [@forgac2007] |
| Protein Type | Enzyme |
| Function | ATP6V0A1 encodes the largest subunit of the V0 sector (a-subunit isoform a1), which forms the proton channel across the lysosomal membrane [3]. |
| Pathways | Role |
| UniProt ID | Q9Y282 |
| NCBI Gene ID | 271 |
| Ensembl ID | ENSG00000115884 |
| GeneCards | ATP6V0A1 |
| Human Protein Atlas | ATP6V0A1 |
| Lysosomal acidification | Maintaining optimal pH (~4.5-5.0) for hydrolytic enzyme activity |
| Synaptic vesicle acidification | Enabling neurotransmitter uptake into synaptic vesicles |
| Autophagosome-lysosome fusion | Regulating the final degradative step of autophagy |
| Endosomal trafficking | Facilitating protein sorting and recycling |
| Lysosomal dysfunction | Reduced V-ATPase activity impairs lysosomal degradation, leading to accumulation of alpha-synuclein aggregates |
| Associated Diseases | neurodegeneration |
| Databases | GeneCardsHPASTRING |
No AI portrait yet
No comments yet. Be the first to comment!