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Voltage-Gated Sodium Channel β1 Gene: An Overview
Human Heredity ( IF 1.8 ) Pub Date : 2021-05-26 , DOI: 10.1159/000516388
Hisham Al-Ward 1 , Chun-Yang Liu 2 , Ning Liu 1 , Fahmi Shaher 3 , Murad Al-Nusaif 4 , Jing Mao 1 , Hui Xu 1
Affiliation  

Background: Voltage-gated sodium channels are protein complexes composed of 2 subunits, namely, pore-forming α- and regulatory β-subunits. A β-subunit consists of 5 proteins encoded by 4 genes (i.e., SCN1B–SCN4B). Summary: β1-Subunits regulate sodium ion channel functions, including gating properties, subcellular localization, and kinetics. Key Message: Sodium channel β1- and its variant β1B-subunits are encoded by SCN1B. These variants are associated with many human diseases, such as epilepsy, Brugada syndrome, Dravet syndrome, and cancers. On the basis of previous research, we aimed to provide an overview of the structure, expression, and involvement of SCN1B in physiological processes and focused on its role in diseases.
Hum Hered


中文翻译:

电压门控钠通道β1基因:概述

背景:电压门控钠通道是由2个亚基组成的蛋白质复合物,即成孔性α-亚基和调节性β-亚基。一个β亚基由4个基因(即SCN1B–SCN4B)编码的5种蛋白质组成。总结: β 1亚基调节钠离子通道的功能,包括门控性质,亚细胞定位和动力学。关键信息:钠通道β 1 -和其变体β 1B亚基由编码SCN1B。这些变异与许多人类疾病有关,例如癫痫,Brugada综合征,Dravet综合征和癌症。在以前的研究的基础上,我们旨在概述SCN1B的结构,表达和在生理过程中的参与,并着重于SCN1B在疾病中的作用。
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更新日期:2021-05-26
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