GRIN1
Description
The GRIN1 gene provides instructions for making a protein called GluN1, a subunit of the NMDA receptor. NMDA receptors are critical for learning, memory, and synaptic plasticity, processes that underlie brain development and function. These receptors are activated by the neurotransmitter glutamate and are involved in various brain activities, including signal transmission, neuronal development, and synaptic plasticity. Variations in the GRIN1 gene can lead to a range of neurological disorders.
Associated Diseases
Did you know?
Mutations in the GRIN1 gene are linked to a rare genetic disorder called ‘NMDA receptor deficiency syndrome,‘ characterized by severe intellectual disability, seizures, and developmental delays.
