PRRT2

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

PRRT2
Identifiers
AliasesPRRT2, BFIC2, BFIS2, DSPB3, DYT10, EKD1, FICCA, ICCA, IFITMD1, PKC, proline rich transmembrane protein 2
External IDsOMIM: 614386 MGI: 1916267 HomoloGene: 114328 GeneCards: PRRT2
Gene location (Human)
Chr.Chromosome 16 (human)[1]
Band16p11.2Start29,811,382 bp[1]
End29,815,892 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

112476

69017

Ensembl

ENSG00000167371

ENSMUSG00000045114

UniProt

Q7Z6L0

E9PUL5

RefSeq (mRNA)

NM_001256442
NM_001256443
NM_145239

NM_001102563

RefSeq (protein)

NP_001243371
NP_001243372
NP_660282

NP_001096033

Location (UCSC)Chr 16: 29.81 – 29.82 MbChr 7: 127.02 – 127.02 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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]

gollark: Do we need a new music bot? My sources say that <@235088799074484224> imploded.
gollark: Really.
gollark: Suuuuuuuuuuure.
gollark: We may need to export all tags from R. Danny prior to its apification.
gollark: Do people in the UK actually *know* English?

See also
  • Paroxysmal kinesogenic choreoathetosis

References
  1. GRCh38: Ensembl release 89: ENSG00000167371 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000045114 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "Entrez Gene: Proline-rich transmembrane protein 2". Retrieved 2011-11-26.
  6. 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.
  7. 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.
  8. Papandreou A, Danti FR, Spaull R, Leuzzi V, Mctague A, Kurian MA (February 2020). "The expanding spectrum of movement disorders in genetic epilepsies". Developmental Medicine and Child Neurology. 62 (2): 178–191. doi:10.1111/dmcn.14407. PMID 31784983.

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


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.