Involved in transport of proteins from the cis/medial- Golgi to the trans-Golgi network. Defects in GOSR2 are the cause of progressive myoclonic epilepsy type 6 (EPM6). A neurologic disorder characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade. Cognition is not usually affected, although mild memory difficulties may occur in the third decade. Belongs to the GOSR2 family. 3 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Endoplasmic reticulum; Membrane protein, integral
Biological Process: ER to Golgi vesicle-mediated transport; Golgi to vacuole transport; intra-Golgi vesicle-mediated transport; protein targeting to vacuole; retrograde transport, endosome to Golgi; vesicle fusion with Golgi apparatus; vesicle-mediated transport