Golgi SNAP receptor complex member 2 (GOSR2)

Golgi SNAP receptor complex member 2 (GOSR2) is a trafficking membrane protein that serves as a Qb-SNARE, facilitating the transport of proteins from the endoplasmic reticulum (ER) and ER-Golgi intermediate compartment (ERGIC) to the medial and trans-Golgi network[3][4][5]. It is an integral part of the SNARE complex, interacting with other SNAREs—such as syntaxin-5, Bet1, and Sec22b—to mediate vesicle docking and fusion events that are essential for intracellular protein trafficking[5]. Mutations in the GOSR2 gene disrupt these trafficking processes and cause a spectrum of neurologic diseases, most notably North Sea progressive myoclonus epilepsy (NS-PME) and congenital muscular dystrophy, typically resulting in epilepsy, myoclonus, muscle weakness, and motor development delays, but generally with preserved cognition[1][2][5]. There are three main transcript variants of GOSR2, and disease mutations tend to affect highly conserved sites within its SNARE motif critical for complex formation and function[2][5][3]. No direct interacting drugs or established biomarker or screening paradigms are reported for GOSR2 as of current knowledge.

Other names

GS27Bos127 kDa Golgi SNARE proteinMembrinEPM6MYOS