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EPILX1

Chr X

synapsin I

Also known as: EPILX, EPILX1, MRX50, SYN1a, SYN1b, SYNI

NCBI Gene: 6853

The protein is a neuronal phosphoprotein that associates with synaptic vesicles and regulates axonogenesis, synaptogenesis, and neurotransmitter release through phosphorylation-dependent mechanisms. Mutations cause X-linked epilepsy with variable learning disabilities and behavioral disorders. This condition follows X-linked inheritance, primarily affecting males.

ResearchSummary from RefSeq, OMIM

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]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

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Mechanism

Some data sources returned errors (3)