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PRRT2 encodes a transmembrane protein containing a proline-rich domain in its N-terminal half. Zusätzlich bieten wir Ihnen PRRT2 Proteine (6) und viele weitere Produktgruppen zu diesem Protein an.
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The cases reported here constitute the first genetic-confirmed series of paroxysmal kinesigenic dyskinesia (PKD (zeige PRKD1 Antikörper)) in Hong Kong. The PRRT2 c.649dupC screening is recommened for all patients with all forms of PKD (zeige PRKD1 Antikörper).
Data show that proline-rich transmembrane protein 2 (PRRT2) is decreased in glioma and is targeted by microRNA miR (zeige MLXIP Antikörper)-30a-5p.
These findings indicate a novel role for zinc regulation in the PKCalpha (zeige PKCa Antikörper)/beta-catenin (zeige CTNNB1 Antikörper) pathway and explain an important mechanism for controlling of stem cell program in lung cancer cells.
PRRT2 mutations most likely not associated with benign epilepsy with centrotemporal spikes in Chinese mainland population.
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.
In this study, 20 probands with BPEI were negative for family history of BPEI and negative for PRRT2 mutation.
a novel intronic PRRT2 mutation causes paroxysmal kinesigenic dyskinesia with infantile convulsions
comprehensive review of PRRT2-associated diseases.
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.
649dupC frameshift mutation of the PRRT2 gene is associated paroxysmal kinesigenic dyskinesia.
PRRT2 interacts with the Src (zeige SRC Antikörper) homology 3 domain-bearing protein Intersectin 1 (zeige ITSN1 Antikörper), an intracellular protein (zeige CKAP2 Antikörper) involved in synaptic vesicle cycling.
Mutants associated with paroxysmal kinesigenic dyskinesia with infantile convulsions C lead to dramatically reduced PRRT2 levels.
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. Mutations in this gene are associated with episodic kinesigenic dyskinesia-1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
dispanin subfamily B member 3
, interferon induced transmembrane protein domain containing 1