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Promoter analysis of SCN3 A gene and alteration of the promoter activity by sodium channel beta 1 subunit:implications for human channelopathies

机译：SCN3基因的启动子分析和钠通道β1亚基改变启动子活性的改变：对人体通道病的影响

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@@Voltage-gated sodium channel a subunit type III (Nav1.3) is mainly expressed in the central nervous system and contributes to the initiation and propagation of action potentials in neurons. SCN3A, encoding Nav 1.3, is highly expressed in embryonic rodent brains and is almost disappeared in adult age. However, SCN3A is still widely expressed in human adult brain, although with a significantly decreased expression comparing to embryonic brain. Upregulation of SCN3A has been found in halpoinsufficiency of SCN1A and other neurological conditions, such as VGSC beta 1 knockout mice with epilepsy syndrome, epileptic and peripheral nerve injury patients, suggesting a possible pathophysiological significance. Therefore, it is very significant to investigate the transcriptional regulatory mechanism of SCN3A gene.

机译：@@电压门控钠通道A亚基III型（NAV1.3）主要在中枢神经系统中表达，有助于神经元中的动作电位的启动和传播。 SCN3A，编码NAV 1.3，在胚胎啮齿动物大脑中高度表达，在成人年龄几乎消失。然而，SCN3A仍然在人类成年大脑中广泛表达，尽管与胚胎大脑的表达显着降低。 SCN3A的上调已在SCN1A和其他神经病症的萎缩功能中发现，例如VGSCβ1敲除小鼠，癫痫综合征，癫痫和周围神经损伤患者，表明可能的病理生理学意义。因此，研究SCN3A基因的转录调节机制非常重要。

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《Chinese conference on bioinformatics and systems biology》|2010年||共2页
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Yue-Sheng Long; Jia-Ming Qin; Guang-Fei Deng; Tao Zeng; Qi-Hua Zhao; Yong-Hong Yi; Wei-Ping Liao;
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中图分类生物工程学（生物技术）;
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Promoter analysis of SCN3 A gene and alteration of the promoter activity by sodium channel beta 1 subunit:implications for human channelopathies

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