Our bodies are made of cells, and each cell has a set of instructions called genes. The RPH3Agene gives instructions for making a protein that acts like a traffic controller at the communication points (called "synapses") between brain cells. This protein helps ensure that messages between brain cells are sent and received correctly, which is crucial for everything we do, from thinking to moving.
In RPH3A-related disorder, a small spelling mistake in the gene causes the protein to be built incorrectly. This faulty protein disrupts the normal communication between brain cells, leading to the developmental and neurological problems seen in the condition.
RPH3A