VPS13C

VPS13C encodes the vacuolar protein sorting-associated protein 13C, also commonly known as chorein - like protein. This protein is involved in lipid transport and membrane trafficking. It functions by maintaining the proper lipid composition of cell membranes, which is crucial for normal cellular functions. Regarding signal pathways, it participates in pathways related to autophagy and endocytosis.
Mutations in the VPS13C gene are linked to Cohen syndrome, a rare genetic disorder characterized by intellectual disability, facial dysmorphism, and retinal dystrophy. Currently, research on drug development targeting VPS13C is in its early stages, with efforts focused on understanding its precise molecular mechanisms to identify potential therapeutic targets.