PRRT2 Human

The PRRT2 protein is a presynaptic membrane protein predominantly expressed in the brain and spinal cord during both embryonic and postnatal stages . It is an unstable hydrophilic protein located on the plasma membrane, with its secondary structure mainly comprising random coils (67.65%) and alpha helices (23.24%) . The protein also contains multiple potential phosphorylation sites, indicating its involvement in various signaling pathways .

PRRT2 plays a crucial role in cell exocytosis and neurotransmitter release. It interacts with several proteins inside neurons that participate in the process of neurotransmitter release . The protein is involved in the negative regulation of the soluble NSF attachment protein receptor (SNARE) complex assembly and calcium-dependent activation of synaptic vesicle fusion . Additionally, PRRT2 is thought to affect the function of several types of ion channels .

Mutations in the PRRT2 gene are associated with several movement disorders, most notably paroxysmal kinesigenic dyskinesia (PKD), where approximately one-third of cases harbor mutations in PRRT2 . These mutations have also been linked to episodic ataxias and various types of epilepsy . Furthermore, PRRT2 mutations can lead to hemiplegic migraine .

Evolutionary analysis has shown that the human PRRT2 protein has the closest genetic distance from Pongo abelii (Sumatran orangutan) . This suggests a conserved function of the protein across different species.

The detailed functions of PRRT2 remain unclear, and ongoing research aims to elucidate its role in neurological disorders. Understanding the regulation of PRRT2 expression and its involvement in disease pathogenesis could provide valuable insights for developing therapeutic strategies.