PSD2
PSD2 Gene: Unraveling Its Role in Brain Health and Disease
Description
The PSD2 gene, short for postsynaptic density protein 2, encodes a protein that plays a crucial role in the brain. PSD2 is located on chromosome 12 and is essential for the proper functioning of synapses, the junctions between neurons where communication takes place.
PSD2 forms part of a protein complex known as the NMDA receptor complex. NMDA receptors are glutamate receptors that are responsible for transmitting signals between neurons. PSD2 helps regulate the activity of NMDA receptors and ensure their proper function.
Associated Diseases
Mutations in the PSD2 gene have been linked to a number of neurological and psychiatric disorders, including:
- Autism spectrum disorder (ASD): PSD2 mutations are found in a small percentage of individuals with ASD. These mutations can lead to impaired synaptic function and communication between neurons.
- Schizophrenia: Studies have shown that PSD2 mutations may increase the risk of developing schizophrenia. These mutations can affect the structure and function of synapses, which can lead to cognitive and behavioral abnormalities.
- Intellectual disability: Mutations in PSD2 can also lead to intellectual disability, characterized by difficulties in cognitive tasks such as learning, memory, and problem-solving.
Did you Know ?
Approximately 1 in 1,000 individuals has a mutation in the PSD2 gene. Mutations in PSD2 can vary in severity, with some mutations leading to significant neurological impairments while others have milder effects.
