SYT15

Chr 10

synaptotagmin 15

Also known as: CHR10SYT, sytXV

NCBI Gene: 83849 ENSG00000204176 UniProt: Q9BQS2 OMIM: 608081

The protein encoded by SYT15 is involved in trafficking and exocytosis of secretory vesicles in non-neuronal tissues, functioning as a membrane trafficking protein with tandem C2 domains. Mutations cause autosomal recessive developmental and epileptic encephalopathy with onset in infancy, characterized by seizures, developmental delay, and intellectual disability. The gene is not highly constrained against loss-of-function variants.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of the Synaptotagmin (Syt) family of membrane trafficking proteins. Members of this family contain a transmembrane region and a C-terminal-type tandem C2 domain. Unlike related family members, the encoded protein may be involved in membrane trafficking in non-neuronal tissues. Two trancript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.78

LOEUF

Multiple*

Mechanism· predicted