PRRT2抗体—艾普蒂

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     The image is immunohistochemistry of paraffin-embedded Human tonsil tissue using P10380(PRRT2 Antibody) at dilution 1/40. (Original magnification: ×200)    

  
  

**Background of PRRT2 Antibody**

PRRT2 (proline-rich transmembrane protein 2) is a gene encoding a neuronal protein predominantly expressed in the central nervous system, particularly in synapses. Discovered in 2011. PRRT2 gained attention due to its association with paroxysmal neurological disorders. Mutations in *PRRT2* are linked to conditions like paroxysmal kinesigenic dyskinesia (PKD), benign familial infantile epilepsy (BFIE), and infantile convulsions with choreoathetosis (ICCA). The PRRT2 protein regulates synaptic vesicle release and neurotransmitter signaling by interacting with proteins such as SNAP-25 and syntaxin-1. key components of the SNARE complex. Its dysfunction disrupts neuronal excitability, leading to hyperexcitability and episodic symptoms.

PRRT2 antibodies are tools used in research to detect and study the expression, localization, and function of the PRRT2 protein. These antibodies aid in immunohistochemistry, Western blotting, and immunofluorescence, enabling visualization of PRRT2 distribution in brain tissues or cultured neurons. Studies using PRRT2 antibodies have revealed reduced protein levels in mutation carriers, supporting loss-of-function mechanisms in disease pathogenesis. Additionally, they help explore PRRT2's role in neurodevelopment and synaptic plasticity.

Clinically, PRRT2 antibodies are not yet used for diagnostics but contribute to understanding genotype-phenotype correlations. Research on PRRT2 pathophysiology may inform therapeutic strategies, such as targeting synaptic transmission pathways. Overall, PRRT2 antibodies are vital for unraveling the molecular basis of paroxysmal disorders and advancing potential treatments.