人 SYN2 (NM_133625) cDNA克隆

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 encodes a neuron-specific phosphoprotein that selectively binds to small synaptic vesicles in the presynaptic nerve terminal. The TIMP4 gene is located within an intron of this gene and is transcribed in the opposite direction. Mutations in this gene may be associated with abnormal presynaptic function and schizophrenia. Alternative splicing of this gene results in two transcripts. [provided by RefSeq, Jul 2008]