Vps13A Protein is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
:: infobox .infobox-protein
| Protein Name | VPS13A |
| Gene | VPS13A |
| UniProt ID | Q9UPQ3 |
| PDB Structure | Not available |
| Molecular Weight | ~350 kDa |
| Subcellular Localization | ER-mitochondria contact sites, Golgi |
| Protein Family | VPS13 family |
::
This page provides comprehensive information about the subject's role in neurodegenerative diseases. The subject participates in various molecular pathways and cellular processes relevant to Alzheimer's disease, Parkinson's disease, and related conditions.
VPS13A is a large protein (~3179 amino acids) with multiple domains including a chorein domain. It localizes to membrane contact sites between the endoplasmic reticulum (ER) and mitochondria, where it functions as a lipid transfer protein.
VPS13A regulates lipid transfer at ER-mitochondria contact sites, maintaining mitochondrial membrane lipid composition and function. It is involved in autophagosome formation, lysosomal trafficking, and mitochondrial quality control through mitophagy 1.
Recessive mutations in VPS13A cause chorea-acanthocytosis (ChAc), a neurodegenerative disorder with choreiform movements, cognitive decline, and red blood cell acanthocytosis. Loss of VPS13A function leads to mitochondrial dysfunction and impaired autophagy in neurons 2.
VPS13A variants increase PD risk through impaired mitophagy and accumulation of damaged mitochondria in dopaminergic neurons 3.
The study of Vps13A Protein 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.