PRRT2
Protein-coding gene in humans
From Wikipedia, the free encyclopedia
Proline-rich transmembrane protein 2 is a protein that in humans is encoded by the PRRT2 gene.[5]
| PRRT2 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aliases | PRRT2, BFIC2, BFIS2, DSPB3, DYT10, EKD1, FICCA, ICCA, IFITMD1, PKC, proline rich transmembrane protein 2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 614386; MGI: 1916267; HomoloGene: 114328; GeneCards: PRRT2; OMA:PRRT2 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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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]
