PRRT2
| Proline-rich transmembrane protein 2 | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||
| Symbols | PRRT2 ; BFIC2; BFIS2; DSPB3; DYT10; EKD1; FICCA; ICCA; IFITMD1; PKC | ||||||||||
| External IDs | OMIM: 614386 HomoloGene: 114328 GeneCards: PRRT2 Gene | ||||||||||
| |||||||||||
| Orthologs | |||||||||||
| Species | Human | Mouse | |||||||||
| Entrez | 112476 | 69017 | |||||||||
| Ensembl | ENSG00000167371 | ENSMUSG00000045114 | |||||||||
| UniProt | Q7Z6L0 | E9PUL5 | |||||||||
| RefSeq (mRNA) | NM_001256442 | NM_001102563 | |||||||||
| RefSeq (protein) | NP_001243371 | NP_001096033 | |||||||||
| Location (UCSC) |
Chr 16: 29.81 – 29.82 Mb |
Chr 7: 127.02 – 127.02 Mb | |||||||||
| PubMed search | |||||||||||
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]
See also
References
- 1 2 "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
- 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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