TRAPPC3
TRAPPC3, or Trafficking Protein Particle Complex 3, is a protein subunit of the TRAPP (Transport Protein Particle) complex. The TRAPP complex is a multi-subunit protein complex involved in vesicle trafficking, specifically in the early secretory pathway. It functions as a guanine nucleotide exchange factor (GEF) for Rab GTPases, which are key regulators of vesicle budding, transport, and fusion.
More specifically, TRAPPC3 is believed to be a core component of both TRAPPI and TRAPPII complexes. The TRAPPI complex is essential for the endoplasmic reticulum (ER)-to-Golgi transport and is involved in the activation of Rab1. The TRAPPII complex is a larger complex that includes TRAPPI components and is involved in later stages of Golgi trafficking, and influences the activation of other Rab GTPases.
Mutations in the TRAPPC3 gene have been linked to various disorders, including skeletal dysplasia and neurological disorders. Research suggests that disruption of TRAPPC3 function can lead to defects in Golgi organization and function, impacting glycosylation and secretion of proteins. Further research is ongoing to fully elucidate the specific roles of TRAPPC3 in different cellular processes and the precise mechanisms by which its dysfunction contributes to disease.