TRAPPC2L is involved in the early stages of vesicular transport between the endoplasmic reticulum (ER) and the Golgi apparatus . The TRAPP complex mediates the contact between vesicles and target membranes, facilitating the transport of proteins and lipids . Knockdown of individual components of the TRAPP complexes has been shown to cause Golgi fragmentation and arrest anterograde trafficking, highlighting the essential role of TRAPPC2L in maintaining Golgi structure and function .
Mutations in the TRAPPC2L gene have been associated with certain diseases. For example, a homozygous missense mutation (D37Y) in the TRAPPC2L gene has been identified in individuals with early-onset progressive encephalopathy with episodic rhabdomyolysis (PEERB) . This mutation causes a defect in intracellular trafficking, leading to the clinical manifestations of the disease .
Recombinant TRAPPC2L protein is used in various research applications to study its function and role in vesicular trafficking. Understanding the mechanisms by which TRAPPC2L and the TRAPP complex operate can provide insights into the pathogenesis of diseases associated with vesicular transport defects and potentially lead to the development of therapeutic interventions.