菜单 基因医生

该基因编码的蛋白是囊泡相关膜蛋白（vamp）/突触蛋白家族的成员。突触蛋白/ VAMPs，突触结合蛋白和25 kD突触体相关蛋白SNAP25是突触囊泡与突触前膜对接和/或融合的蛋白复合物的主要成分。这种基因被认为参与了对接和融合之间的神经递质释放该蛋白与突触结合蛋白、突触体相关蛋白、25 kD和突触蛋白形成稳定的复合物。它还与突触素形成一个独特的复合物它可能是家族性婴儿肌无力（fimg）的候选基因，因为它的定位图和编码一种与fimg发病有关的突触囊泡蛋白。[由RefSeq提供，2008年7月]
The protein encoded by this gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein SNAP25 are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. This gene is thought to participate in neurotransmitter release at a step between docking and fusion. The protein forms a stable complex with syntaxin, synaptosomal-associated protein, 25 kD, and synaptotagmin. It also forms a distinct complex with synaptophysin. It is a likely candidate gene for familial infantile myasthenia (FIMG) because of its map location and because it encodes a synaptic vesicle protein of the type that has been implicated in the pathogenesis of FIMG. [provided by RefSeq, Jul 2008]