VPS50
Description
VPS50, also known as Retromer complex subunit VPS35, is a critical protein involved in protein trafficking within eukaryotic cells. It plays a central role in the retromer complex, a multi-protein complex responsible for retrieving cargo proteins from endosomes and directing them back to the trans-Golgi network. This process is essential for maintaining cellular homeostasis, signaling pathways, and proper organelle function. Mutations in VPS50 can disrupt the retromer complex‘s functionality, leading to various cellular malfunctions.
Associated Diseases
- Alzheimer‘s disease
- Parkinson‘s disease
- Amyotrophic Lateral Sclerosis (ALS)
- Huntington‘s disease
- Danon disease
- Cerebrotendinous xanthomatosis
- Niemann-Pick type C disease
- Retinitis pigmentosa
- Charcot-Marie-Tooth disease
- Spinocerebellar ataxia
Did you know?
VPS50 is highly conserved across various eukaryotic organisms, highlighting its fundamental role in cellular function.
