SYN3 Chromosome 22
Synapsin III
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What This Gene Does
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. The protein encoded by this gene shares the synapsin family domain model, with domains A, C, and E exhibiting the highest degree of conservation. The protein contains a unique domain J, located between domains C and E. Based on this gene's localization to 22q12.3, a possible schizophrenia susceptibility locus, and the established neurobiological roles of the synapsins, this family member may represent a candidate gene for schizophrenia. The TIMP3 gene is located within an intron of this gene and is transcribed in the opposite direction. Alternative splicing of this gene results in multiple splice variants that encode different isoforms. [provided by RefSeq, Oct 2008]
Gene Info
Gene Group
Synapsins
Locus Type
gene with protein product
Location
22q12.3
Ensembl
ENSG00000185666
Associated Conditions (5)
Global developmental delay
Cerebellar vermis atrophy
Generalized hypotonia
Visual impairment
Seizure
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1057519444 | Health Risk | Pathogenic | Global developmental delay, Cerebellar vermis atrophy, Generalized hypotonia |