| Proline-rich transmembrane protein 2 | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||
| Symbols | PRRT2; DYT10; EKD1; IFITMD1; PKC | ||||||||||
| External IDs | OMIM: 614386 HomoloGene: 114328 GeneCards: PRRT2 Gene | ||||||||||
|
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| Orthologs | |||||||||||
| Species | Human | Mouse | |||||||||
| Entrez | 112476 | n/a | |||||||||
| Ensembl | ENSG00000167371 | n/a | |||||||||
| UniProt | Q7Z6L0 | n/a | |||||||||
| RefSeq (mRNA) | NM_001256442.1 | n/a | |||||||||
| RefSeq (protein) | NP_001243371.1 | n/a | |||||||||
| Location (UCSC) | Chr 16: 29.82 – 29.83 Mb |
n/a | |||||||||
| PubMed search | [1] | n/a | |||||||||
Proline-rich transmembrane protein 2 is a protein that in humans is encoded by the PRRT2 gene.[1]
PRRT2 encodes a proline-rich transmembrane protein. It has been shown to be the cause of paroxysmal kinesigenic dyskinesia.[2]
References [link]
- ^ "Entrez Gene: Proline-rich transmembrane protein 2". https://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=retrieve&list_uids=112476. Retrieved 2011-11-26T12:05:37.901-08:00.
- ^ 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. DOI:10.1038/ng.1008. PMID 22101681.
See also [link]
External links [link]
- GeneReviews/NIH/NCBI/UW entry on Familial Paroxysmal Kinesigenic Dyskinesia
- OMIM entries on Familial Paroxysmal Kinesigenic Dyskinesia
- NCBI gene
 |
This article on a gene on chromosome 16 is a stub. You can help Wikipedia by expanding it. |
https://wn.com/PRRT2
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