GPHN : gephyrin
Description
The GPHN gene (Glycoprotein, Phosphatidylinositol Binding, Neural) encodes a protein essential for the formation and function of synapses, the junctions between neurons. GPHN acts as a scaffolding protein, anchoring various synaptic proteins to the presynaptic active zone, the site where neurotransmitter release occurs. This precise organization is crucial for efficient and accurate synaptic transmission, which underpins all brain activity. Mutations in GPHN can disrupt synaptic function, leading to a range of neurological disorders.
Associated Diseases
Did you know?
GPHN was first discovered in 1998 and its role in synaptic function was quickly recognized. Since then, it has become a central target for understanding the molecular basis of neurological disorders.
