SV2A Chromosome 1
Synaptic vesicle glycoprotein 2A
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What This Gene Does
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]
Gene Info
Gene Group
Solute carrier family 22
Locus Type
gene with protein product
Location
1q21.2
Ensembl
ENSG00000159164
Associated Conditions (2)
See cases
Developmental and epileptic encephalopathy 113
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS782707236 | Health Risk | Likely pathogenic | See cases, Developmental and epileptic encephalopathy 113, See cases |