PRRT2 explained

Proline-rich transmembrane protein 2 is a protein that in humans is encoded by the PRRT2 gene.^[1]

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.^[1]

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.^{[2] [3]} It has also been associated with episodic ataxias, and in particular in combination with various types of epilepsy.^[4] Mutations in PRRT2 lead also to hemiplegic migraine.^[5]

See also

• Paroxysmal kinesogenic choreoathetosis
• Hemiplegic migraine

External links

• GeneReviews/NIH/NCBI/UW entry on Familial Paroxysmal Kinesigenic Dyskinesia
• OMIM entries on Familial Paroxysmal Kinesigenic Dyskinesia
• NCBI gene

Notes and References

1. Web site: Entrez Gene: Proline-rich transmembrane protein 2. 2011-11-26 .
2. Chen WJ, Lin Y, Xiong ZQ, Wei W, Ni W, Tan GH, Guo SL, He J, Chen YF, Zhang QJ, Li HF, Lin Y, Murong SX, Xu J, Wang N, Wu ZY . Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia . Nat Genet . 43. 12. 1252–5. November 2011 . 22101681 . 10.1038/ng.1008 . 16129198 .
3. Li J, Zhu X, Wang X, Sun W, Feng B, Du T, Sun B, Niu F, Wei H, Wu X, Dong L, Li L, Cai X, Wang Y, Liu Y . Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis . J. Med. Genet. . 49 . 2 . 76–8 . February 2012 . 22131361 . 3261727 . 10.1136/jmedgenet-2011-100635 .
4. Papandreou A, Danti FR, Spaull R, Leuzzi V, Mctague A, Kurian MA . The expanding spectrum of movement disorders in genetic epilepsies . Developmental Medicine and Child Neurology . 62 . 2 . 178–191 . February 2020 . 31784983 . 10.1111/dmcn.14407 . 208498567 .
5. Riant. Florence. Roos. Caroline. Roubertie. Agathe. Barbance. Cécile. Hadjadj. Jessica. Auvin. Stéphane. Baille. Guillaume. Beltramone. Marion. Boulanger. Cécile. Cahn. Alice. Cata. Florina. 2022-01-04. Hemiplegic Migraine Associated With PRRT2 Variations: A Clinical and Genetic Study. Neurology. en. 98. 1. e51–e61. 10.1212/WNL.0000000000012947. 34649875 . 245539537 . 0028-3878. subscription.