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Mouse Anti-PRRT2 Recombinant Antibody (CBYC-P668) (CBMAB-P3047-YC)

Provided herein is a Mouse monoclonal antibody against Human Proline Rich Transmembrane Protein 2. The antibody can be used for immunoassay techniques, such as IHC-P.
See all PRRT2 antibodies

Summary

Host Animal
Mouse
Specificity
Human
Clone
CBYC-P668
Antibody Isotype
IgG1
Application
IHC-P

Basic Information

Specificity
Human
Antibody Isotype
IgG1
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Storage
Store at 4°C short term (1-2 weeks). Aliquot and store at-20°C long term. Avoid repeated freeze/thaw cycles.

Target

Full Name
Proline Rich Transmembrane Protein 2
Introduction
PRRT2 is 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.
Entrez Gene ID
112476
UniProt ID
Q7Z6L0
Alternative Names
BFIC2; BFIS2; DSPB3; DYT10; EKD1; FICCA; ICCA; IFITMD1; PKC
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 Ca2+-sensing. In the cerebellum, may inhibit SNARE complex formation and down-regulate short-term facilitation.
Biological Process
Calcium-dependent activation of synaptic vesicle fusionIEA:Ensembl
Negative regulation of short-term synaptic potentiationISS:UniProtKB
Negative regulation of SNARE complex assemblyISS:UniProtKB
Neuromuscular process controlling postureManual Assertion Based On ExperimentIMP:MGI
Synaptic vesicle fusion to presynaptic active zone membraneISS:UniProtKB
Cellular Location
Cell membrane
Presynaptic cell membrane
Synapse
Cell projection, axon
Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane
Postsynaptic density membrane
Cell projection, dendritic spine
Involvement in disease
Episodic kinesigenic dyskinesia 1 (EKD1):
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.
Convulsions, familial infantile, with paroxysmal choreoathetosis (ICCA):
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.
Seizures, benign familial infantile, 2 (BFIS2):
A form of benign familial infantile epilepsy, a neurologic disorder characterized by afebrile seizures occurring in clusters during the first year of life, without neurologic sequelae. BFIS2 inheritance is autosomal dominant.
Topology
Cytoplasmic: 1-268
Helical: 269-289
Cytoplasmic: 290-317
Helical: 318-338
Extracellular: 339-340
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For research use only. Not intended for any clinical use.

Custom Antibody Labeling

We also offer labeled antibodies developed using our catalog antibody products and nonfluorescent conjugates (HRP, AP, Biotin, etc.) or fluorescent conjugates (Alexa Fluor, FITC, TRITC, Rhodamine, Texas Red, R-PE, APC, Qdot Probes, Pacific Dyes, etc.).

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