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Last updated: 04 June 2024 Print

PRRT2-Associated Disorders

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PRRT2 mutations
  • PRRT2 Gene

    • Located on chromosome 16p11.2.
    • Consists of four exons.
    • Encodes a protein of 340 amino acids: proline-rich transmembrane protein 2. PRRT2 protein helps regulate signaling in the brain.
    • Composed of a proline-rich extracellular N-terminal domain and a membrane-bound C-terminal domain.

    PRRT2 Protein Interactions

    • Protein Interactions: The PRRT2 protein interacts with several proteins inside neurons that participate in neurotransmitter release.
    • Ion Channels: PRRT2 is thought to affect the function of several types of ion channels.
    • SNARE Complex: The PRRT2 protein impedes the formation of a group of proteins called the SNARE complex that helps vesicles fuse with the cell membrane.

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