Medicine:PRRT2
 Generic protein structure example |
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
References
- ↑ 1.0 1.1 "Entrez Gene: Proline-rich transmembrane protein 2". https://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=retrieve&list_uids=112476. Retrieved 2011-11-26.
- ↑ "Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia". Nat Genet 43 (12): 1252–5. November 2011. doi:10.1038/ng.1008. PMID 22101681.
- ↑ "Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis". J. Med. Genet. 49 (2): 76–8. February 2012. doi:10.1136/jmedgenet-2011-100635. PMID 22131361.
- ↑ "The expanding spectrum of movement disorders in genetic epilepsies". Developmental Medicine and Child Neurology 62 (2): 178–191. February 2020. doi:10.1111/dmcn.14407. PMID 31784983. https://discovery.ucl.ac.uk/id/eprint/10088482/.
- ↑ Riant, Florence; Roos, Caroline; Roubertie, Agathe; Barbance, Cécile; Hadjadj, Jessica; Auvin, Stéphane; Baille, Guillaume; Beltramone, Marion et al. (2022-01-04). "Hemiplegic Migraine Associated With PRRT2 Variations: A Clinical and Genetic Study" (in en). Neurology 98 (1): e51–e61. doi:10.1212/WNL.0000000000012947. ISSN 0028-3878. PMID 34649875. https://www.neurology.org/lookup/doi/10.1212/WNL.0000000000012947.
External links
- GeneReviews/NIH/NCBI/UW entry on Familial Paroxysmal Kinesigenic Dyskinesia
- OMIM entries on Familial Paroxysmal Kinesigenic Dyskinesia
- NCBI gene
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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