GOSR2 is involved in the transport of proteins from the cis/medial-Golgi to the trans-Golgi network . This process is essential for the proper functioning of the Golgi apparatus, which is responsible for modifying, sorting, and packaging proteins and lipids for secretion or delivery to other organelles . The protein encoded by GOSR2 is a part of the SNARE (Soluble NSF Attachment Protein Receptor) complex, which mediates the docking and fusion of vesicles originating from the endoplasmic reticulum (ER) with the Golgi apparatus .
Mutations in the GOSR2 gene have been linked to several disorders, including North Sea progressive myoclonus epilepsy (NS-PME), a rare subtype of progressive myoclonus epilepsy prevalent in northern Europe . Additionally, due to its chromosomal location and trafficking function, GOSR2 may be involved in familial essential hypertension . The gene has three transcript variants encoding different isoforms, which adds to its functional diversity .
The study of GOSR2 and its recombinant forms is significant for understanding the molecular mechanisms underlying vesicular trafficking and its associated disorders. Human recombinant GOSR2 is used in various research applications, including the study of protein transport, Golgi apparatus function, and the development of therapeutic interventions for related genetic disorders.