Synaptotagmin 9

Alternative Names

  • SYT9
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OMIM Number

613528

NCBI Gene ID

143425

Uniprot ID

Q86SS6

Length

230,266 bases

No. of Exons

12

Protein Name

Synaptotagmin-9

Molecular Mass

56188 Da

Amino Acid Count

491

Genomic Location

chr11:7,238,778-7,469,043

Gene Map Locus
11p15.4

Description

The SYT9 gene encodes a member of the synaptotagmin family. Synaptotagmins are integral membrane proteins of synaptic vesicles. They contain a transmembrane domain at their N-terminal, followed by C2A and C2B domains. These proteins carry out calcium-dependent phospholipid binding through their C2A domain and are suggested to be involved in the calcium-dependent exocytosis of secretory vesicles. By carrying out its functions, the SYT9 protein mediates the release of neurotransmitters such as norepinephrine and maintains fast synaptic transmission. It is also believed to function as a calcium-ion sensor during vesicular trafficking.

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_175733.4:c.1471C>TSaudi ArabiaNC_000011.10:g.7466795C>TUncertain SignificanceNM_175733.4:c.1471C>T; NP_783860.1:p.Arg491Ter147851702
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