SYN1 synapsin I
Gene ID: 6853, updated on 2-Nov-2024Gene type: protein coding
Also known as: SYNI; EPILX; MRX50; SYN1a; SYN1b; EPILX1
Summary
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]
Associated conditions
| Description | Tests |
|---|---|
| Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | not available |
| Intellectual disability, X-linked 50 | not available |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2022-07-12) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2022-07-12) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- Xp11.3-p11.23
- Sequence:
- Chromosome: X; NC_000023.11 (47571901..47619857, complement)
- Total number of exons:
- 13
Variation
| Resource | Links for this gene |
|---|---|
| SNP | Variation Viewer for SYN1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
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