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PRRT2 Rabbit pAb

     
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Product Information
Application
  • Applications Legend:
  • E=ELISA
  • WB=Western Blotting
  • IHC=Immunohistochemistry
  • IHC-P=Immunohistochemistry (Paraffin)
  • IP=Immunoprecipitation
  • IF=Immunofluorescence
  • IC=Immunochemistry
  • ICC=Immunocytochemistry
  • FC=Flow Cytometry
  • DB=Dot Blot
WB
Primary Accession Q7Z6L0
Other Accession Q7Z6L0
Host Rabbit
Clonality Polyclonal
Calculated MW 34945 Da
Physical State Liquid
Immunogen KLH conjugated synthetic peptide derived from human PRRT2
Epitope Specificity 201-300/340
Isotype IgG
Purity affinity purified by Protein A
Buffer 0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol.
SIMILARITY Belongs to the CD225/Dispanin family.
DISEASE Episodic kinesigenic dyskinesia 1 (EKD1) [MIM:128200]: An autosomal dominant neurologic condition characterized by recurrent and brief attacks of abnormal involuntary movements, triggered by sudden voluntary movement. These attacks usually have onset during childhood or early adulthood and can involve dystonic postures, chorea, or athetosis. Note=The disease is caused by mutations affecting the gene represented in this entry. Disease-causing mutations that produce truncation of the C-terminus of the protein alter subcellular location, from plasma membrane to cytosplasm (PubMed:22101681). Convulsions, familial infantile, with paroxysmal choreoathetosis (ICCA) [MIM:602066]: A syndrome characterized by clinical features of benign familial infantile seizures and episodic kinesigenic dyskinesia. Benign familial infantile seizures is a disorder characterized by afebrile seizures occurring during the first year of life, without neurologic sequelae. Paroxysmal choreoathetosis is a disorder of involuntary movements characterized by attacks that occur spontaneously or are induced by a variety of stimuli. Note=The disease is caused by mutations affecting the gene represented in this entry. Seizures, benign familial infantile 2 (BFIS2) [MIM:605751]: An autosomal dominant disorder in which afebrile seizures occur in clusters during the first year of life, without neurologic sequelae. Note=The disease is caused by mutations affecting the gene represented in this entry.
Important Note This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
Background Descriptions 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. [provided by RefSeq, Jan 2012]
Additional Information
Gene ID 112476
Other Names BFIC2; BFIS2; DSPB3; DYT10; EKD1; FICCA; ICCA; IFITMD1; PKC; 1500031I19Rik; RGD1564195; PRRT2_HUMAN; PRRT2; Dispanin subfamily B member 3 (DSPB3); PRRT2_MOUSE; PRRT2_RAT; proline rich transmembrane protein 2; infantile convulsions and paroxysmal choreoathetosis; dystonia 10; proline-rich transmembrane protein 2; interferon induced transmembrane protein domain containing 1; dispanin subfamily B member 3; Episodic kinesigenic dyskinesia 1; Paroxysmal kinesigenic dyskinesia
Dilution WB=1:500-2000
StorageStore at -20 °C for one year. Avoid repeated freeze/thaw cycles. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C.

For Research Use Only. Not For Use In Diagnostic Procedures.

Protein Information
Name PRRT2
Function As a component of the outer core of AMPAR complex, may be involved in synaptic transmission in the central nervous system. In hippocampal neurons, in presynaptic terminals, plays an important role in the final steps of neurotransmitter release, possibly by regulating Ca(2+)-sensing. In the cerebellum, may inhibit SNARE complex formation and down-regulate short-term facilitation.
Cellular Location Cell membrane; Single-pass membrane protein {ECO:0000250|UniProtKB:E9PUL5}. Presynaptic cell membrane {ECO:0000250|UniProtKB:E9PUL5}; Single-pass membrane protein {ECO:0000250|UniProtKB:E9PUL5}. Synapse {ECO:0000250|UniProtKB:E9PUL5} Cell projection, axon. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000250|UniProtKB:D3ZFB6}. Postsynaptic density membrane {ECO:0000250|UniProtKB:D3ZFB6}. Cell projection, dendritic spine {ECO:0000250|UniProtKB:D3ZFB6}
Research Areas
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