GRIN2C

GRIN2C is a gene that encodes the GluN2C subunit of the N-methyl-D-aspartate receptor (NMDAR). This receptor is a type of ionotropic glutamate receptor that is critical for synaptic plasticity, which is the ability of synapses to strengthen or weaken over time. This process is essential for learning and memory.

Function

The GRIN2C gene is part of the glutamate receptor family of genes, which are responsible for mediating excitatory synaptic transmission in the nervous system. The protein encoded by this gene forms a heteromeric complex with another glutamate receptor protein, and this complex acts as an ion channel that allows the flow of calcium ions into neurons. This influx of calcium is a critical step in the process of neuronal excitability and synaptic plasticity.

Clinical significance

Mutations in the GRIN2C gene have been associated with a variety of neurological disorders, including epilepsy, intellectual disability, and autism spectrum disorder. These mutations can lead to a loss of function of the NMDAR, which can disrupt normal synaptic function and lead to neurological symptoms.

Research

Research into the GRIN2C gene and its associated protein is ongoing, with a focus on understanding the role of this gene in normal brain function and in disease. This research may lead to new treatments for neurological disorders associated with mutations in this gene.

See also

• NMDA receptor
• Glutamate receptor
• Synaptic plasticity
• Neurological disorder

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