Gene:
synapsin I
Gene ID:
204704
Symbol:
SYN1
Species:
1000
Description:
This gene is a member of the synapsin gene family. Synapsins encode neuronal phosphoproteins which associate with the cytoplasmic surface of synaptic vesicles. Family members are characterized by common protein domains, and they are implicated in synaptogenesis and the modulation of neurotransmitter release, suggesting a potential role in several neuropsychiatric diseases. This member of the synapsin family plays a role in regulation of axonogenesis and synaptogenesis. The protein encoded serves as a substrate for several different protein kinases and phosphorylation may function in the regulation of this protein in the nerve terminal. The TIMP1 gene is located within an intron of this gene and is transcribed in the opposite direction. Mutations in this gene may be associated with X-linked disorders with primary neuronal degeneration such as Rett syndrome. Differential splicing of this gene involving alternative use of splice acceptor sites results in two transcripts.