Article
The intramembrane COOH-terminal domain of PRRT2 regulates voltage-dependent Na+ channels.
The Journal of biological chemistry - 1 May 2023
Franchi Francesca, Marte Antonella, Corradi Beatrice, Sterlini Bruno, Alberini Giulio, Romei Alessandra, De Fusco Antonio, Vogel Alexander, Maragliano Luca, Baldelli Pietro, Corradi Anna, Valente Pierluigi, Benfenati Fabio
Abstract excerpt
Proline-rich transmembrane protein 2 (PRRT2) is the single causative gene for pleiotropic paroxysmal syndromes, including epilepsy, kinesigenic dyskinesia, episodic ataxia, and migraine. PRRT2 is a neuron-specific type-2 membrane protein with a COOH-terminal intramembrane domain and a long proline-rich NH2-terminal cytoplasmic region. A large array of experimental data indicates that PRRT2 is a neuron stability...
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