Primary Identifier | IPR028713 | Type | Family |
Short Name | SYN1 |
description | The synapsins are a family of neuron-specific phosphoproteins that coatsynaptic vesicles and are involved in the binding between these vesiclesand the cytoskeleton (including actin filaments). The family comprises 5homologous 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 aresplice 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) []. |