GRIN2B : glutamate ionotropic receptor NMDA type subunit 2B
The GRIN2B Gene and Its Role in Brain Function
Description
The GRIN2B gene is responsible for producing a protein called GluN2B. This protein is an essential component of NMDA receptors, specialized structures found on the surface of nerve cells in the brain. NMDA receptors are glutamate-gated ion channels that allow positively charged particles to flow into cells, activating them and allowing them to send signals to each other.
During fetal development, GluN2B is highly expressed in the brain, contributing to the maturation and specialization of neurons. As the brain develops, the expression of GluN2B decreases, but it remains present in certain areas of the brain, including the hippocampus and prefrontal cortex, which are essential for learning and memory.
Associated Diseases
Mutations in the GRIN2B gene have been linked to a range of neurological disorders, including:
- Schizophrenia: Disruptions in GluN2B function have been implicated in the development of schizophrenia, a mental disorder characterized by hallucinations, delusions, and disorganized thinking.
- Autism Spectrum Disorder (ASD): Mutations in GRIN2B have been identified in individuals with ASD, suggesting a role for GluN2B in social and cognitive development.
- Intellectual Disability: Severe mutations in GRIN2B can lead to intellectual disability and developmental delays.
- Epilepsy: Some mutations in GRIN2B have been associated with an increased risk of epilepsy, a neurological disorder characterized by recurrent seizures.
Did you Know ?
According to the National Institutes of Health (NIH), mutations in the GRIN2B gene are estimated to affect approximately 1 in 100,000 individuals worldwide. However, the prevalence of mutations that contribute to specific neurological disorders varies.
