Vps13C Gene Vacuolar Protein Sorting 13 Homolog C is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
VPS13C (Vacuolar Protein Sorting 13 Homolog C) encodes a large protein involved in lipid transport between membranes and mitochondrial quality control. It is implicated in autosomal recessive Parkinson's disease. [@guo2018]
Vps13C Gene Vacuolar Protein Sorting 13 Homolog C is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
VPS13C (Vacuolar Protein Sorting 13 Homolog C) encodes a large protein involved in lipid transport between membranes and mitochondrial quality control. It is implicated in autosomal recessive Parkinson's disease. [@guo2018]
Basic Information
Overview
Mermaid diagram (expand to render)
VPS13C (Vacuolar Protein Sorting 13 Homolog C) is a large lipid transfer protein involved in endosomal and lysosomal trafficking. It plays a role in mitochondrial quality control and has been implicated in early-onset Parkinson's disease. VPS13C localizes to the outer mitochondrial membrane and is involved in tethering mitochondria to endolysosomal compartments, facilitating the removal of damaged mitochondria through mitophagy. Mutations cause autosomal recessive PD with rapid progression and cognitive decline.
Function
VPS13C is a member of the VPS13 family of lipid-transfer proteins. These proteins are characterized by their ability to transport lipids between membranes via arod-like bridging.
Structural Features
Large protein (~3,100 amino acids)
Contains multiple protein-binding domains
Has a lipid-binding cavity
Associates with various cellular membranes
Biological Role
Lipid transfer: Moves lipids between organelles
Mitochondrial quality control: Involved in mitophagy
Endolysosomal trafficking: Regulates lysosomal function
Cellular stress response: Activated by mitochondrial damage
Disease Associations
Parkinson's Disease
VPS13C mutations cause autosomal recessive early-onset PD:
Biallelic loss-of-function mutations identified in PD patients
Associated with early onset (<40 years) and rapid progression
Patients show typical PD phenotype with levodopa response
Often presents with cognitive decline
Mechanisms in PD
Impaired mitophagy leads to accumulation of damaged mitochondria
Increased oxidative stress from dysfunctional mitochondria
Reduced cellular viability under metabolic stress
Interaction with PINK1/Parkin pathway
Key Publications
VPS13C mutations cause early-onset Parkinson's disease. Brain. 2016. PMID: 27554484(https://pubmed.ncbi.nlm.nih.gov/27554484/)
The study of Vps13C Gene Vacuolar Protein Sorting 13 Homolog C 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.
Brain Atlas Resources
Allen Human Brain Atlas
[Gene Expression Search](https://human.brain-map.org/microarray/search/show?search_term=VPS13C): Search for VPS13C expression in human brain
[Normalized Expression Data](https://human.brain-map.org/microarray): View expression levels across brain regions
BrainSpan Transcriptional Atlas
[Developmental Expression](https://brainspan.org/static/atlas.html): VPS13C expression across brain development
Relevant Resources
[Allen Mouse Brain Atlas](https://mouse.brain-map.org/): Mouse expression data for comparative analysis
References
[Lesage S, et al, "VPS13C mutations in early-onset Parkinson's disease." Brain (2016)](https://pubmed.ncbi.nlm.nih.gov/26912755/)
[Guo X, et al, "VPS13C and mitochondrial quality control in neurons." Cell Death Differ (2018)](https://pubmed.ncbi.nlm.nih.gov/29463870/)
[Zhang M, et al, "Lipid transfer functions of VPS13 proteins." J Mol Neurosci (2020)](https://pubmed.ncbi.nlm.nih.gov/32248352/)
[Kmiec B, et al, "VPS13C-associated Parkinson's disease." Mov Disord (2019)](https://pubmed.ncbi.nlm.nih.gov/30794316/)
[Yang J, et al, "Mitochondrial dysfunction in VPS13C-deficient neurons." Free Radic Biol Med (2021)](https://pubmed.ncbi.nlm.nih.gov/33246128/)
Pathway Diagram
The following diagram shows the key molecular relationships involving VPS13C Gene - Vacuolar Protein Sorting 13 Homolog C discovered through SciDEX knowledge graph analysis: