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Highest antigen sequence indentity to the following orthologs: Mouse (61%), Rat (61%).
This recombinant protein control fragment may be used for blocking experiments. In IHC/ICC and WB experiments, we recommend a 100x molar excess of the protein fragment control based on the concentration and the molecular weight. Pre-incubate the antibody-protein control fragment mixture for 30 min at room temperature.
The proline-rich transmembrane protein 2 (PRRT2) contains a proline-rich domain in its N-terminal half and is predominantly expressed in brain and spinal cord in embryonic and postnatal stages. While little is known of the function of this protein, mutations in PRRT2 have been shown to be the causative gene of paroxysmal kinesigenic dyskinesia, which is characterized by recurrent, brief attacks of abnormal involuntary movements induced by sudden voluntary movements. Recent studies have shown that PRRT2 may also be involved in some forms of benign familial infantile epilepsy (BFIE), an autosomal dominant epilepsy syndrome.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Dispanin subfamily B member 3; DSPB3; dystonia 10; infantile convulsions and paroxysmal choreoathetosis; interferon induced transmembrane protein domain containing 1; Proline-rich transmembrane protein 2
基因别名: BFIC2; BFIS2; DSPB3; DYT10; EKD1; FICCA; ICCA; IFITMD1; PKC; PRRT2
UniProt ID: (Human) Q7Z6L0
Entrez Gene ID: (Human) 112476