PhenomeGene — Human Disease Gene Website SeriesPRRT2

Molecular characteristics

PRRT2 encodes the proline-rich transmembrane Protein 2. The PRRT2 gene is located on chromosome 16p11.2 in humans. The PRRT2 protein is believed to play a role in neurotransmitter release and synaptic function. It may be involved in the regulation of calcium signaling and vesicle trafficking at synapses. The exact functional mechanisms are still being studied, but its involvement in excitatory neurotransmission has been suggested.