Vps13A 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-gene
| Gene Symbol | VPS13A |
| Full Name | Vacuolar Protein Sorting 13 Homolog A |
| Chromosomal Location | 9q21.13 |
| NCBI Gene ID | 23286 |
| OMIM | 216950 |
| Ensembl ID | ENSG00000140320 |
| UniProt | Q9UPQ3 |
| Associated Diseases | Chorea-acanthocytosis, Parkinson's Disease |
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VPS13A (Vacuolar Protein Sorting 13 Homolog A) is a gene located on chromosome 9q21.13 that encodes a large protein involved in membrane trafficking between cellular organelles. VPS13A is a member of the vacuolar protein sorting 13 (VPS13) family and plays crucial roles in intracellular lipid transport, particularly at endoplasmic reticulum (ER)-mitochondria contact sites. The protein facilitates lipid transfer between organelles and is essential for maintaining mitochondrial function, autophagy, and lysosomal trafficking. Mutations in VPS13A cause chorea-acanthocytosis (ChAc), a neurodegenerative disorder characterized by involuntary movements and cognitive impairment. Additionally, VPS13A variants have been associated with increased risk for Parkinson's disease, highlighting its importance in dopaminergic neuron survival.
VPS13A encodes a member of the vacuolar protein sorting 13 (VPS13) family of proteins, which are involved in membrane trafficking between organelles. VPS13A localizes to endoplasmic reticulum (ER)-mitochondria contact sites and regulates lipid transfer between these organelles. It plays a role in mitochondrial function, autophagy, and lysosomal trafficking 1.
Recessive mutations in VPS13A cause chorea-acanthocytosis (ChAc), a neurodegenerative disorder characterized by involuntary movements (chorea), cognitive impairment, and red blood cell acanthocytosis. The disease typically presents in early adulthood with progressive movement disorders and behavioral changes 2.
VPS13A variants have been associated with increased risk for Parkinson's disease. VPS13A deficiency leads to impaired mitophagy and accumulation of damaged mitochondria in dopaminergic neurons 3.
VPS13A is widely expressed in the brain, with high expression in the basal ganglia (caudate nucleus, putamen), cerebral cortex, and cerebellum. It is also expressed in peripheral blood cells.
The study of Vps13A 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.