Recombinant Human Proline-rich transmembrane protein 2 (PRRT2)

1. This study showed that there is no significant difference in the the age at onset between the PKD patients with (n = 27) and without (n = 46) PRRT2 mutation. PMID: 29285950
2. miR-30b promotes glioblastoma cell proliferation, migration, and invasion via targeting PRRT2. PMID: 28550683
3. Results identified PRRT2 and DAB2IP to be frequently mutated in all different cancer cell line types. Further analysis showed that both genes were also frequently mutated in colorectal and endometrial cancer patient samples. Functional studies revealed PRRT2 to be implicated in cellular proliferation and migration with the truncated microsatellite instability-derived PRRT2 form promoting both processes. PMID: 27907910
4. the expression level of PRRT2 was much higher in the human brain than in other human tissues, thus providing experimental evidence for a potential relationship between PRRT2 and neurogenesis. To the best of our knowledge, this study is the first to report the expression pattern of PRRT2 in human tissues. PMID: 27449084
5. PRRT2 mutations have roles in neuronal dysfunction and neurodevelopmental defects PMID: 27172900
6. The cases reported here constitute the first genetic-confirmed series of paroxysmal kinesigenic dyskinesia (PKD) in Hong Kong. The PRRT2 c.649dupC screening is recommened for all patients with all forms of PKD. PMID: 27920401
7. Data show that proline-rich transmembrane protein 2 (PRRT2) is decreased in glioma and is targeted by microRNA miR-30a-5p. PMID: 28192116
8. These findings indicate a novel role for zinc regulation in the PKCalpha/beta-catenin pathway and explain an important mechanism for controlling of stem cell program in lung cancer cells. PMID: 28122729
9. PRRT2 mutations most likely not associated with benign epilepsy with centrotemporal spikes in Chinese mainland population. PMID: 26954261
10. Exome sequencing was conducted and a duplication mutation c.649dupC (p.R217Pfs*8) in the proline-rich transmembrane protein 2 gene (PRRT2) was identified in patients with febrile seizures. PMID: 25502464
11. In this study, 20 probands with BPEI were negative for family history of BPEI and negative for PRRT2 mutation. PMID: 26561923
12. we found three new mutations in PRTTS in patients with Paroxysmal Kinesigenic Dyskinesia: c.insT27 p.Ser9*, c.G967A p.Gly323Arg and c.delCA215_216 p.Thr72Argfs*62. PMID: 26384010
13. a novel intronic PRRT2 mutation causes paroxysmal kinesigenic dyskinesia with infantile convulsions PMID: 26936445
14. comprehensive review of PRRT2-associated diseases. PMID: 26598493
15. study highlights the frequency, novel mutations and clinical and molecular spectrum of PRRT2, SLC2A1 and PNKD mutations as well as the phenotype-genotype overlap among these paroxysmal movement disorders. PMID: 26598494
16. 649dupC frameshift mutation of the PRRT2 gene is associated paroxysmal kinesigenic dyskinesia. PMID: 26829736
17. mutant PRRT2, probably through its weakened interaction with SNAP25, affects glutamate signaling and glutamate receptor activity, resulting in the increase of glutamate release and subsequent neuronal hyperexcitability. PMID: 25915028
18. PRRT2 mutations are common in patients with paroxysmal kinesigenic dyskinesia (PKD) and are associated with an earlier age at onset, longer duration of attacks, combined phenotypes of dystonia and chorea, and a tendency for a family history of PKD. PMID: 26446061
19. investigated sequences of PRRT2 and CLCN1 in a proband diagnosed with paroxysmal kinesigenic dyskinesia and suspected myotonia congenita; the proband and his father harbored a PRRT2 c.649dupC mutation, and CLCN1 c.1723C>T and c.2492A>G mutations; first report showing the coexistence of PRRT2 and CLCN1 mutations PMID: 25205014
20. phenotypic spectrum of biallelic mutations PMID: 25595153
21. The results of this study suggest that the NMD of truncated mutation of PRRT2 and altered cellular localization of undegraded of PRRT2, might lead to Paroxysmal Kinesigenic. PMID: 25457817
22. PRRT2 variants were probably involved in the etiology of febrile seizures in epileptic patients. PMID: 25522171
23. A novel PRRT2 mutation was found in patients with benign familial infantile seizures. PMID: 25060993
24. we describe the wide clinical spectrum associated with PRRT2 mutations and present the current hypotheses on the underlying pathophysiology [review] PMID: 25194488
25. PRRT2 is the causative gene of infantile convulsions with paroxysmal choreoathetosis and the mutation c.649_650insC was the hotspot of PRRT2 mutations. PMID: 25449067
26. Data indicate proline-rich transmembrane protein 2 (PRRT2) as the causative gene of paroxysmal kinesigenic dyskinesias, benign familial infantile seizures, convulsions with choreoathetosis, and suggest to name them as PRRT2-related paroxysmal disorders. PMID: 25297589
27. Two novel mutations in PRRT2 were revealed in paroxysmal dyskinesia and choreoathetosis syndrome. PMID: 24609974
28. results do not support a role for PRRT2 coding sequence variants in ASD, but provide an ascertainment of its genetic variability in worldwide populations that should help researchers and clinicians to better investigate the role of PRRT2 in human diseases PMID: 24594579
29. This study indicated that positivity for PRRT2 mutation is a predictor of younger age of onset and more frequent of attacks in PKD patients. PMID: 24661410
30. Our findings demonstrated that the c.186-187delGC mutation resulted in a truncated protein from the PRRT2 gene to involve in paroxysmal kinesigenic dyskinesia pathogenesis with haploinsufficiency PMID: 25027704
31. This study confirms that PRRT2 mutations are common in paroxysmal kinesigenic dyskinesia with the first double PRRT2 mutation reported PMID: 23551744
32. PRRT2 is a common causative gene for patients with paroxysmal kinesigenic dyskinesia from Southwest China. PMID: 23496026
33. PRRT2 is the major causative gene of benign familial infantile epilepsy and infantile convulsions with paroxysmal choreoathetosis in Chinese families. PMID: 24370076
34. In this family, benign familial infantile seizures (BFIS) are caused by a PRRT2 mutation and hemiplegic migraine by p.Arg689Gln ATPase ATP1A2 mutation. PMID: 24928127
35. Compared to controls, patients with the p.P217fsX7 mutation showed increased amplitude of low-frequency fluctuation in the right postcentral gyrus. This might reflect the distinct pathological mechanism resulting from PRRT2 mutation PMID: 23532549
36. mutation analysis of PRRT2 has identified c.649-650insC mutation in all BFIS patients. PMID: 23896529
37. we identified PRRT2as the main causative gene for paroxysmal kinesigenic dyskinesia among the Taiwanese population PMID: 23436308
38. PRRT2 mutations do not seem to be involved in the aetiology of FS or infantile epileptic encephalopathies. PMID: 24101679
39. We describe a family with characteristic Paroxysmal dyskinesia and a nonsense PRRT2 mutation PMID: 22902309
40. Our study revealed that PRRT2 mutations are common in Japanese patients with benign infantile epilepsy, especially in patients with a family history of paroxysmal kinesigenic dyskinesia PMID: 23131349
41. Each rare copy number variation (CNV) is unique to one specific patient, except the PRRT2-containing 16p11.2 microduplication, illustrating the high level of genomic heterogeneity in rolandic epilepsy. PMID: 24372385
42. This study further supports the idea that PRRT2 is the main causative gene for parkinson disease in Chinese people PMID: 23456995
43. The identification of heterozygous mutations in the PRRT2 gene in paroxysmal kinesigenic dyskinesia as well as in benign familial infantile seizures linked episodic movement disorders with epilepsy. PMID: 23963607
44. In this review, a description of numerous paroxysmal disorders and their link to PRRT2 mutations is described. PMID: 23398397
45. The coexistence of paroxysmal kinesigenic dyskinesia and hemiplegic migraine is reported in twins harboring a heterozygous mutation in PRRT2. PMID: 23182655
46. This study showed that 5 variants in the PRRT2 gene in 20 paroxysmal kinesigenic dyskinesia pedigrees. PMID: 23529024
47. This study showed that in one paroxysmal kinesigenic dyskinesia combined with infantile seizures family with mutations are exclusively found in two exons of the PRRT2 gene. PMID: 23299620
48. Review on the role of PRRT2 in benign familial infantile epilepsy, infantile convulsions with choreoathetosis syndrome, and paroxysmal kinesigenic dyskinesia. PMID: 23343561
49. study enlarges the clinical spectrum related to PPRT2 mutations and underscores the complexity of the phenotypic consequences of mutations in this gene PMID: 23352743
50. The results confirm that a mutation of PRRT2,is a hotspot mutation resulting in benign infantile epilepsy or infantile convulsions with choreoathetosis syndrome regardless of the ethnic background. PMID: 23073245

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HGNC: 30500

OMIM: 128200

KEGG: hsa:112476

STRING: 9606.ENSP00000351608

UniGene: Hs.655071