Type: | Family | Name: | Synapsin-1 |
Description: | The synapsins are a family of neuron-specific phosphoproteins that coat synaptic vesicles and are involved in the binding between these vesiclesand the cytoskeleton (including actin filaments). The family comprises 5 homologous proteins 1a, 1b, 2a, 2b and 3. Synapsins 1, 2, and 3 areencoded by 3 different genes. The a and b isoforms of synapsin 1 and 2 are splice variants of the primary transcripts [].This entry represents synapsin-1 (SYN1). Synapsin I is mainly associated with regulation of neurotransmitter release from presynaptic neuron terminals []. Mutations in SYN1 gene cause epilepsy X-linked, with variable learning disabilities and behavior disorders (XELBD) []. | Short Name: | SYN1 |