From the Guidelines
The VPS13A gene has no clear function mentioned in the provided evidence.
Details of the Evidence
- The study 1 focuses on therapeutic opportunities for the treatment of NASH with genetically validated targets, but it does not mention the VPS13A gene.
- The text discusses various genes and their roles in lipid metabolism, such as PNPLA3, GPAM, MBOAT7, and ABHD5, but VPS13A is not mentioned.
- The study highlights the importance of understanding the genetic variants associated with liver damage and metabolic traits, but VPS13A is not referenced.
- The evidence provided is related to lipid metabolism and liver disease, but it does not provide any information about the VPS13A gene.
From the Research
Function of the VPS13A Gene
The VPS13A gene is associated with several key functions, including:
- Encoding a protein involved in lipid transport and homeostasis 2, 3, 4, 5
- Playing a role in protein trafficking and cytoskeletal regulation 2
- Influencing lipid droplet abundance 5
- Forming a complex with partner proteins, such as XK, to mediate distinct processes 6
Role in Disease
The VPS13A gene is linked to several diseases, including:
- Chorea-acanthocytosis (ChAc), a rare hereditary neurodegenerative disorder 2, 4
- Neurodegeneration and neurological disorders resulting from mutations in the VPS13A gene 3
- McLeod Syndrome, which shares similar phenotypes with ChAc and may be related to dysregulation of the VPS13A-XK complex 6
Molecular Mechanisms
The VPS13A protein is a member of a novel family of bridge-like lipid transfer proteins, which:
- Adopt a rod-like bridge conformation with an extended hydrophobic groove to enable bulk transfer of membrane lipids 3, 5
- Localize to multiple organelle contact sites, including endoplasmic reticulum (ER) - lipid droplet (LD) contact sites 5
- May be involved in autophagy and cytoskeletal regulation, although the specific mechanisms are unclear 2