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PRRT2

Protein-coding gene in humans From Wikipedia, the free encyclopedia

PRRT2
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Proline-rich transmembrane protein 2 is a protein that in humans is encoded by the PRRT2 gene.[5]

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Structure and tissue distribution

This gene encodes a transmembrane protein containing a proline-rich domain in its N-terminal half. Studies in mice suggest that it is predominantly expressed in brain and spinal cord in embryonic and postnatal stages.[5]

Clinical significance

Mutations in this gene are associated with a number of movement disorders, most commonly paroxysmal kinesigenic dyskinesia where approximately 1/3 of cases will harbor mutations in PRRT2.[6][7] It has also been associated with episodic ataxias, and in particular in combination with various types of epilepsy.[8] Mutations in PRRT2 lead also to hemiplegic migraine.[9]

See also

References

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