PRRT2

VALUE_ERROR (nil)
Identifiers
Aliases
External IDs	GeneCards: [1]
Orthologs
	n/a
	n/a
	n/a
	n/a
	n/a
	n/a
	n/a
	n/a
	n/a
	n/a
	Wikidata
View/Edit Human

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 paroxysmal kinesigenic dyskinesia.^[2] Almost one third of sporadic PKC patients also carry PRRT2 mutations.^[3]

References

↑ ^1.0 ^1.1 "Entrez Gene: Proline-rich transmembrane protein 2". Retrieved 2011-11-26.
↑ 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 (November 2011). "Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia". Nat Genet. 43 (12): 1252–5. doi:10.1038/ng.1008. PMID 22101681.
↑ 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 (February 2012). "Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis". J. Med. Genet. 49 (2): 76–8. doi:10.1136/jmedgenet-2011-100635. PMC 3261727. PMID 22131361.

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

This article on a gene on human chromosome 16 is a stub. You can help Wikipedia by expanding it.

[entrez-1] 1.0 ^1.1 "Entrez Gene: Proline-rich transmembrane protein 2". Retrieved 2011-11-26.

[pmid22101681-2] 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 (November 2011). "Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia". Nat Genet. 43 (12): 1252–5. doi:10.1038/ng.1008. PMID 22101681.

[pmid22131361-3] 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 (February 2012). "Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis". J. Med. Genet. 49 (2): 76–8. doi:10.1136/jmedgenet-2011-100635. PMC 3261727. PMID 22131361.

[1]

[2]

[3]

PRRT2

Contents

Structure and tissue distribution

Clinical significance

See also

References

External links

Navigation menu