SYN1 synapsin I

Gene ID: 6853, updated on 2-Nov-2024
Gene 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

See all available tests in GTR for this gene

Description	Tests
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders MedGen: C5774177OMIM: 300491GeneReviews: Not available	See labs
Intellectual disability, X-linked 50 MedGen: C1848087OMIM: 300115GeneReviews: Not available	See labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2022-07-12) ClinGen Genome Curation Page Haploinsufficency 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

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for SYN1 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
SYN1 @ LOVD
Variation Viewer
Related Variants

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