This gene encodes an integral membrane protein of small synaptic vesicles in brain and endocrine cells. The protein also binds cholesterol and is thought to direct targeting of vesicle-associated membrane protein 2 (synaptobrevin) to intracellular compartments. Mutations in this gene are associated with an X-linked form of cognitive disability. [provided by RefSeq, Jul 2017]
Forensic Context
A study in rats demonstrated that synaptophysin, a presynaptic protein, was used as a marker in co-localization immunohistochemistry experiments following traumatic brain injury, showing a punctate distribution overlapping with the SYP in the deafferented dentate molecular layer, which suggests the SYP is associated with sprouting presynaptic terminals [Falo et al. DOI:10.1089/neu.2008.0511].