The PRRT2 gene provides instructions for making the proline-rich transmembrane protein 2 (PRRT2). This protein is found in nerve cells (neurons) in the brain, and it helps regulate signaling from neuron to neuron. Communication between neurons depends on chemicals called neurotransmitters. Neurotransmitters are contained in compartments (vesicles) inside the nerve cell and are released from one neuron and taken up by neighboring neurons. The release of neurotransmitters is controlled by many processes. The flow of charged atoms (ions) into the neuron through ion channels generates and transmits electrical signals that stimulate and coordinate neurotransmitter release. In addition, the vesicles carrying neurotransmitters join (fuse) with the cell membrane to release the chemicals into the junction between neurons (the synapse).
The PRRT2 protein interacts with several proteins inside neurons that take part in the process of neurotransmitter release. PRRT2 is thought to affect the function of several types of ion channels. In addition, the PRRT2 protein impedes the formation of a group of proteins called the SNARE complex that helps vesicles fuse with the cell membrane. Through these roles, the PRRT2 protein helps regulate signaling in the brain.
Other Names
dispanin subfamily B member 3; DKFZp547J199; DSPB3; EKD1; FLJ25513; IFITMD1; interferon induced transmembrane protein domain containing 1; PKC; proline-rich transmembrane protein 2; PRRT2_HUMAN
Related Genetics Topics
- Familial hemiplegic migraine — MedlinePlus Genetics
- Familial paroxysmal kinesigenic dyskinesia — MedlinePlus Genetics
Identifiers
- NCBI Gene: 112476
- OMIM: 602066
- OMIM: 605751
- OMIM: 614386
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
