SYN1 Human Recombinant Protein

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. Mutations in this gene may be associated with X-linked disorders with primary neuronal degeneration such as Rett syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

SYN1: neuronal phosphoprotein which associates with the cytoplasmic surface of synaptic vesicles and binds to the cytoskeleton. May function in the regulation of neurotransmitter release and of axonogenesis and synaptogenesis. Mutations may be associated with X-linked disorders with primary neuronal degeneration such as Rett syndrome. Two differentially spiced isoforms have been reported.

Protein type: Vesicle

Chromosomal Location of Human Ortholog: Xp11.23

Cellular Component: Golgi apparatus; synaptic vesicle; dendrite; cytosol; cell junction

Molecular Function: protein binding; transporter activity; actin binding; protein kinase binding; calcium-dependent protein binding; catalytic activity; ATP binding

Biological Process: synaptic transmission; metabolic process; neurotransmitter secretion; regulation of neurotransmitter secretion

Disease: Epilepsy, X-linked, With Variable Learning Disabilities And Behavior Disorders