Vps13D Gene plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.
Vps13D Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
| Vacuolar Protein Sorting 13 Homolog D | |
|---|---|
| Gene Symbol | VPS13D |
| Full Name | Vacuolar Protein Sorting 13 Homolog D |
| Chromosome | 1p36.22 |
| NCBI Gene ID | 27127 |
| OMIM | 607317 |
| Ensembl ID | ENSG00000048647 |
| UniProt ID | Q5THJ3 |
| Associated Diseases | Parkinson's Disease, Spinocerebellar Ataxia, Hereditary Spastic Paraplegia, Developmental Disorders |
VPS13D encodes a large protein involved in membrane trafficking and autophagy. VPS13 family members form contact sites between organelles and facilitate lipid transfer between membranes. VPS13D is particularly important for mitochondrial quality control through mitophagy and for late endosome/lysosome function. VPS13D mutations cause recessive cerebellar ataxia and spastic paraplegia, and variants have been associated with Parkinson's disease risk.
Widely expressed, with high expression in brain (cerebellum, basal ganglia), heart, and muscle.
| Disease | Mechanism |
|---|---|
| Parkinson's Disease | |
| Spinocerebellar Ataxia | |
| Hereditary Spastic Paraplegia | |
| Developmental Disorders |
| Partner | Interaction Type | Pathway |
|---|
No clinical trials directly targeting this gene are currently registered for neurodegenerative diseases.
Vps13D Gene plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.
The study of Vps13D Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.