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PRRT2 encodes a transmembrane protein containing a proline-rich domain in its N-terminal half. Additionally we are shipping PRRT2 Proteins (6) and many more products for this protein.
Showing 10 out of 27 products:
The cases reported here constitute the first genetic-confirmed series of paroxysmal kinesigenic dyskinesia (PKD (show PRKD1 Antibodies)) in Hong Kong. The PRRT2 c.649dupC screening is recommened for all patients with all forms of PKD (show PRKD1 Antibodies).
Data show that proline-rich transmembrane protein 2 (PRRT2) is decreased in glioma and is targeted by microRNA miR (show MLXIP Antibodies)-30a-5p.
These findings indicate a novel role for zinc regulation in the PKCalpha (show PKCa Antibodies)/beta-catenin (show CTNNB1 Antibodies) 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 (show SRC Antibodies) homology 3 domain-bearing protein Intersectin 1 (show ITSN1 Antibodies), an intracellular protein (show CKAP2 Antibodies) 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