VPS54

VPS54 is a protein-coding gene found in humans and other organisms. The protein encoded by this gene is part of the Golgi-associated retrograde protein complex, also known as the GARP complex. This complex plays a crucial role in the retrograde transport of vesicles within the cell, specifically moving molecules from the trans-Golgi network back to the early Golgi compartments. The GARP complex is essential for maintaining the structural integrity and functional organization of the Golgi apparatus, a vital organelle involved in modifying, sorting, and packaging proteins and lipids for secretion or delivery to other organelles.

Mutations in the VPS54 gene have been linked to certain neurological disorders, including a form of hereditary spastic paraplegia, type 77 (HSP77). This condition is characterized by progressive stiffness and spasticity in the legs, often accompanied by other neurological symptoms. Research suggests that defects in VPS54 function can disrupt neuronal development and maintenance, leading to the observed clinical manifestations. Studies in model organisms have further illuminated the importance of VPS54 in processes such as axon growth and the proper trafficking of essential cellular components within neurons. The precise mechanisms by which VPS54 dysfunction leads to neurodegeneration are still under active investigation.