Vps13C

VPS13C is a gene located in the human genome that encodes the protein Vps13C, which is part of the VPS13 family. This family of proteins is involved in lipid transport and membrane trafficking within cells. The VPS13C protein is predominantly associated with endosomes and lysosomes, playing a critical role in maintaining cellular lipid homeostasis and membrane dynamics.

The VPS13C gene is situated on chromosome 15q21.1 and consists of multiple exons. Its expression is observed across various tissues, with notable levels in the brain, heart, and immune system components, indicating its involvement in diverse physiological processes.

Research has linked mutations or variants in VPS13C to neurodegenerative conditions, particularly Parkinson's disease. Studies suggest that dysfunction of VPS13C may impair autophagy and lysosomal degradation pathways, leading to the accumulation of cellular waste and contributing to neuronal degeneration.

VPS13C interacts with several other proteins involved in lipid transfer and membrane maintenance, emphasizing its role in cellular transport mechanisms. Its function is crucial for the integrity of intracellular organelles and the overall cellular health.

While ongoing research continues to elucidate the full spectrum of VPS13C's functions, it is recognized as an important component in cellular lipid regulation and neurodegenerative disease pathways. Understanding its mechanisms may provide insights into therapeutic targets for related disorders.