VPS13D

VPS13D is a protein that in humans is encoded by the VPS13D gene. This protein is part of the Vacuolar Protein Sorting 13 (VPS13) family, which includes several other proteins, such as VPS13A, VPS13B, and VPS13C. Members of this family are involved in various cellular processes, including autophagy, vesicle transport, and mitochondrial maintenance. The VPS13D protein, in particular, plays a critical role in the regulation of mitochondrial function and cellular energy metabolism.

Mutations in the VPS13D gene have been associated with a range of neurological disorders, including movement disorders and neurodegenerative diseases. One of the most notable conditions linked to mutations in this gene is VPS13D-related movement disorder, characterized by symptoms such as ataxia, spasticity, and dystonia. This condition highlights the importance of VPS13D in neuronal function and brain health.

Research into VPS13D has also shed light on its involvement in mitophagy, the selective degradation of mitochondria by autophagy. This process is crucial for maintaining cellular health by removing damaged or dysfunctional mitochondria, thus preventing mitochondrial diseases and contributing to cellular homeostasis.

The study of VPS13D and its associated pathways offers potential therapeutic targets for treating related neurological disorders. By understanding how mutations in the VPS13D gene affect cellular and mitochondrial functions, researchers can develop strategies to mitigate these effects and improve patient outcomes.