PRRT2

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PRRT2
Identifiers
Aliases PRRT2, BFIC2, BFIS2, DSPB3, DYT10, EKD1, FICCA, ICCA, IFITMD1, PKC, proline rich transmembrane protein 2
External IDs MGI: 1916267 HomoloGene: 114328 GeneCards: PRRT2
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001256442
NM_001256443
NM_145239

NM_001102563

RefSeq (protein)

NP_001243371
NP_001243372
NP_660282

NP_001096033.1
NP_001096033

Location (UCSC) Chr 16: 29.81 – 29.82 Mb Chr 7: 127.02 – 127.02 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Proline-rich transmembrane protein 2 is a protein that in humans is encoded by the PRRT2 gene.[3]

Structure and tissue distribution[edit]

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.[3]

Clinical significance[edit]

Mutations in this gene are associated with paroxysmal kinesigenic dyskinesia.[4] Almost one third of sporadic PKC patients also carry PRRT2 mutations.[5]

See also[edit]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ a b "Entrez Gene: Proline-rich transmembrane protein 2". Retrieved 2011-11-26. 
  4. ^ 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. 
  5. ^ 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 3261727Freely accessible. PMID 22131361. 

External links[edit]

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