VPS16

VPS16, also known as Vacuolar Protein Sorting 16, is a gene that encodes a protein essential for the proper functioning of the endosomal-lysosomal pathway in eukaryotic cells. This pathway is crucial for cellular processes such as protein degradation, nutrient recycling, and maintaining cellular homeostasis. The VPS16 protein is a component of the HOPS (homotypic fusion and protein sorting) complex, a large multi-subunit tethering complex that plays a vital role in mediating the fusion of vesicles with their target organelles. Specifically, the HOPS complex is involved in the fusion of late endosomes with lysosomes.

Mutations or deficiencies in VPS16 can lead to severe cellular defects, impacting various cellular functions. These defects can manifest as impaired lysosomal degradation, accumulation of undegraded material within cells, and disruptions in organelle trafficking. In humans, mutations in VPS16 have been associated with certain neurodevelopmental disorders, underscoring its importance in brain development and function. Research into VPS16 and its associated complexes continues to shed light on the intricate mechanisms governing intracellular transport and the consequences of their dysregulation in disease. Understanding the role of VPS16 is key to unraveling fundamental cellular processes and identifying potential therapeutic targets for related disorders.