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DEE113

Chr 1AR

synaptic vesicle glycoprotein 2A

Also known as: DEE113, SLC22B1, SV2

NCBI Gene: 9900 OMIM: 620772

This gene encodes a synaptic vesicle protein that interacts with synaptotagmin to enhance low frequency neurotransmission in quiescent neurons. Mutations cause developmental and epileptic encephalopathy 113, characterized by early-onset seizures and developmental delays. The condition follows an autosomal recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, OMIM

The protein encoded by this gene is one of three related synaptic vesicle proteins. The encoded protein may interact with synaptotagmin to enhance low frequency neurotransmission in quiescent neurons. [provided by RefSeq, Jun 2016]

OMIM ResearchGenerating clinical summary…