SYT1

SYT1 (Synaptotagmin-1) is a protein that in humans is encoded by the SYT1 gene. It is a member of the synaptotagmin family, which plays a critical role in the regulation of neurotransmitter release.

Function

SYT1 is a type of calcium sensor that is involved in the process of neurotransmission. It is primarily located in the synaptic vesicle membrane, where it plays a crucial role in the fusion of the vesicle with the presynaptic membrane. This fusion allows for the release of neurotransmitters into the synaptic cleft, which can then bind to receptors on the postsynaptic neuron.

Clinical significance

Mutations in the SYT1 gene have been associated with several neurological disorders, including intellectual disability, autism, and epilepsy. In particular, a specific mutation (R26Q) has been identified in individuals with severe intellectual disability and developmental delay.

Research

Research on SYT1 has provided valuable insights into the mechanisms of neurotransmission and the role of calcium in this process. It has also contributed to our understanding of various neurological disorders and may potentially lead to the development of new therapeutic strategies.

See also

• Synaptotagmin
• Neurotransmission
• Synaptic vesicle
• Calcium sensor