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69017 Prrt2

69017

Prrt2

proline-rich transmembrane protein 2

protein-coding

Mus musculus

基因描述

Type Description
Definition proline-rich transmembrane protein 2

研究结论

Date Results Publications
2020-06-20 11:41:00 Constitutive Inactivation of the PRRT2 Gene Alters Short-Term Synaptic Plasticity and Promotes Network Hyperexcitability in Hippocampal Neurons. 29912316
2020-01-04 12:03:00 Prrt2 deletion causes spontaneous paroxysmal episodes with seizure, movement disorders and spatial learning deficits. 30884140
2019-09-14 10:48:00 these findings identify PRRT2 as a novel regulator of the SNARE complex and provide a circuit mechanism underlying the PRRT2-related behaviors. 29056747
2018-02-24 11:31:00 Study describes the phenotype of KO mice for PRRT2 and shows that its loss-of-function recapitulates the human phenotype in terms of episodic disturbances in motor coordination and paroxysmal dyskinesias, suggesting that PRRT2 plays a critical role in the development of cortical connectivity and functional stability of neuronal networks. 28007585
2018-01-27 10:35:00 PRRT2 mutations have roles in neuronal dysfunction and neurodevelopmental defects 27172900

名称对应

Type IDs
Synonymous 1500031I19Rik, AI195361, DSPB3
Gene
UniProtKB-ID: PRRT2_MOUSE
UniprotKB: E9PUL5
UniParc: UPI0000218672
EMBL: AC122863
Ensembl: ENSMUSG00000045114
KO: mmu:69017
Nucleutide sequences
Ensembl_TRS: ENSMUST00000159916
Protein sequencees
Ensembl_PRO: ENSMUSP00000124520
RefSeq: NP_001096033.1, XP_036009308.1, XP_036009307.1, XP_036009306.1
Others
UniRef100: UniRef100_E9PUL5
UniRef90: UniRef90_E9PUL5
UniRef50: UniRef50_Q7Z6L0-3
UniGene: Mm.392047
CCDS: CCDS52405.1

全选

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研究热度

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