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Gene : SYN1 Homo sapiens

Name  ? synapsin I Cytological Location  Xp11.3-p11.23
Brief Description  synapsin I
description  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]
  • synonyms:
  • NM_006950,
  • uc004die.4,
  • SYNI,
  • OTTHUMG00000021454,
  • SYN1a,
  • SYN1b,
  • SYN1,
  • HGNC:11494,
  • Synapsin-1
  • identifiers:
  • 6853,
  • ENSG00000008056,
  • SYN1

Genome feature

Region: gene ? Length: 47957  
Location: X:47571901-47619857 reverse strand Cyto location: Xp11.3-p11.23


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Disease

1 Diseases

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38 SN Ps

5 Cross References

18 Data Sets

7 Homologues

0 Located Features

90 Rna Seq Results