钠通道
蛋白质亚单位
SCN3A型
分子生物学
化学
生物
基因
内分泌学
内科学
钠
Gα亚单位
遗传学
医学
有机化学
作者
Hisham Al-Ward,Chunyang Liu,Ning Liu,Fahmi Shaher,Murad Al‐Nusaif,Jing Mao,Hui Xu
出处
期刊:Human Heredity
[S. Karger AG]
日期:2020-01-01
卷期号:85 (3-6): 101-109
被引量:5
摘要
<b><i>Background:</i></b> 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., <i>SCN1B–SCN4B</i>). <b><i>Summary:</i></b> β<sub>1</sub>-Subunits regulate sodium ion channel functions, including gating properties, subcellular localization, and kinetics. <b><i>Key Message:</i></b> Sodium channel β<sub>1</sub>- and its variant β<sub>1B</sub>-subunits are encoded by <i>SCN1B</i>. 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 <i>SCN1B</i> in physiological processes and focused on its role in diseases.
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