Protein Bassoon (BSN) ELISA Kit for Human

Neurotransmitters are released from a specific site in the axon terminal called the active zone, which is composed of synaptic vesicles and a meshwork of cytoskeleton underlying the plasma membrane. The protein encoded by this gene is thought to be a scaffolding protein involved in organizing the presynaptic cytoskeleton. The gene is expressed primarily in neurons in the brain. A similar gene product in rodents is concentrated in the active zone of axon terminals and tightly associated with cytoskeletal structures, and is essential for regulating neurotransmitter release from a subset of synapses. [provided by RefSeq, Jul 2008]

BSN: involved in the organization of the cytomatrix at the nerve terminals active zone (CAZ) which regulates neurotransmitter release. Essential in regulated neurotransmitter release from a subset of brain glutamatergic synapses. Involved in the formation of the retinal photoreceptor ribbon synapses. Interacts with CAST1, RIMS1 and UNC13A. Part of a complex consisting of ERC2, RIMS1 and BSN. Localized to the active zone of presynaptic density. Mice lacking functional BSN showed a reduced excitability attributed to inactivation of a fraction of brain glutamatergic synapses. At these synapses, vesicles are clustered and docked in normal numbers, but are unable to fuse. In retina, mutants lacking functional BSN showed normal retinal anatomy, but synapses lacked anchoring of the photoreceptor ribbon to the presynaptic active zone resulting in impaired photoreceptor synaptic transmission. Two alternatively spliced isoforms have been reported.

Protein type: Cytoskeletal

Chromosomal Location of Human Ortholog: 3p21.31

Cellular Component: axon; cell junction; cell soma; cell surface; dendrite; excitatory synapse; nucleus; presynaptic active zone; trans-Golgi network

Molecular Function: metal ion binding

Biological Process: synaptic transmission; synaptogenesis