| Gene Symbol | VPS13D |
| Chromosome | 1p36.22 |
| Protein Type | Gene |
| Function | is an important component in the neurobiology of neurodegenerative diseases. |
| Molecular Weight | 500 kDa |
| Amino Acids | 377 aa |
| Exons | 76 |
| GeneCards | VPS13D |
| Human Protein Atlas | VPS13D |
| N-terminal chorein domain | Named after the chorein protein deficient in chorea-acanthocytosis |
| VPS13 core domain | Highly conserved region involved in membrane interactions |
| C-terminal domains | Multiple predicted domains for protein-protein interactions [5] |
| Mitophagy regulation | VPS13D is essential for mitophagy, the selective autophagy of damaged mitochondria. Impaired mitophagy contributes to mitochondrial dysfunction in AD [7]. |
| [Tau](/proteins/tau) pathology | Proper VPS13D function is required for lysosomal degradation of tau aggregates [9]. |
| Neuronal survival | VPS13D deficiency leads to mitochondrial dysfunction and neuronal death [10]. |
| Associated Diseases | Ms, Parkinson |
| Interactions | PARKIN, STING, UBIQUITIN |
| KG Connections | 18 knowledge graph edges |
| Databases | GeneCardsUniProtNCBI GeneHPASTRING |
No AI portrait yet
No comments yet. Be the first to comment!