SYNGR1

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SYNGR1

SYNGR1 is a gene that encodes a protein known as Synaptogyrin-1. This protein is primarily found in the brain and plays a crucial role in synaptic vesicle trafficking and neurotransmitter release. Mutations in the SYNGR1 gene have been associated with certain neurological disorders, including epilepsy and intellectual disabilities.

Function

The Synaptogyrin-1 protein is involved in the regulation of synaptic vesicle exocytosis, which is essential for the release of neurotransmitters at the synapse. It interacts with other proteins in the synaptic vesicle trafficking pathway to ensure proper neurotransmission.

Clinical Significance

Mutations in the SYNGR1 gene have been linked to neurological conditions such as epilepsy and intellectual disabilities. These mutations can disrupt the normal function of the Synaptogyrin-1 protein, leading to abnormalities in synaptic vesicle trafficking and neurotransmitter release.

Research

Research on SYNGR1 continues to explore its role in synaptic function and its implications for neurological disorders. Understanding the mechanisms underlying SYNGR1-related conditions may provide insights into potential therapeutic strategies for these disorders.

See also

• Synaptic vesicle
• Neurotransmitter release
• Epilepsy
• Intellectual disability