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Synaptotagmin-1 is a protein that in humans is encoded by the ''SYT1'' gene.


Function

Synaptotagmins are integral membrane proteins of synaptic vesicles thought to serve as sensors for calcium ions (Ca2+) in the process of vesicular trafficking and exocytosis. Calcium ion binding to synaptotagmin I participates in triggering neurotransmitter release at the synapse. OMIM">Online_Mendelian_Inheritance_in_Man.html" ;"title="upplied by Online Mendelian Inheritance in Man">OMIMref name="entrez"> SYT1 is the master switch responsible for allowing the human brain to release neurotransmitters. SYT1 senses calcium ion concentrations as low as 10 ppm and subsequently signals the SNARE complex to open fusion pores. *


Interactions

SYT1 has been shown to interact with SNAP-25">Protein-protein interaction">interact with SNAP-25, STX1A and S100A13.


Clinical Significance

Mutations in the ''SYT1'' gene cause a rare
neurodevelopmental disorder Neurodevelopmental disorders are a group of disorders that affect the development of the nervous system, leading to abnormal brain function which may affect emotion, learning ability, self-control, and memory. The effects of neurodevelopmental ...
known as
SYT1-associated neurodevelopmental disorder ''SYT1''-associated neurodevelopmental disorder, also known as Baker-Gordon Syndrome, is a rare genetic disorder caused by mutations in the synaptotagmin-1 (''SYT1'') gene. Signs and symptoms Patients present with neurodevelomental impairments ...
(or Baker-Gordon Syndrome).


References


Further reading

* * * * * * * * * * * * * * * * * * * {{Vesicular transport proteins