电压门控钠通道β1基因研究进展

IF 1.1 4区生物学 Q4 GENETICS & HEREDITY Human Heredity Pub Date : 2020-01-01 Epub Date: 2021-05-26 DOI:10.1159/000516388

Hisham Al-Ward, Chun-Yang Liu, Ning Liu, Fahmi Shaher, Murad Al-Nusaif, Jing Mao, Hui Xu

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引用次数: 3

摘要

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α-和调节β-亚基。β-亚基由4个基因编码的5个蛋白组成(即SCN1B-SCN4B)。总结:β1-亚单位调节钠离子通道功能，包括门控特性、亚细胞定位和动力学。关键信息:钠通道β1-及其变体β 1b亚基由SCN1B编码。这些变异与许多人类疾病有关，如癫痫、Brugada综合征、Dravet综合征和癌症。在以往研究的基础上，我们旨在概述SCN1B的结构、表达及其在生理过程中的参与，并重点关注其在疾病中的作用。

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Voltage-Gated Sodium Channel β1 Gene: An Overview.

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.

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来源期刊

Human Heredity 生物-遗传学

CiteScore

2.50

自引率

0.00%

发文量

审稿时长

>12 weeks

期刊介绍： Gathering original research reports and short communications from all over the world, ''Human Heredity'' is devoted to methodological and applied research on the genetics of human populations, association and linkage analysis, genetic mechanisms of disease, and new methods for statistical genetics, for example, analysis of rare variants and results from next generation sequencing. The value of this information to many branches of medicine is shown by the number of citations the journal receives in fields ranging from immunology and hematology to epidemiology and public health planning, and the fact that at least 50% of all ''Human Heredity'' papers are still cited more than 8 years after publication (according to ISI Journal Citation Reports). Special issues on methodological topics (such as ‘Consanguinity and Genomics’ in 2014; ‘Analyzing Rare Variants in Complex Diseases’ in 2012) or reviews of advances in particular fields (‘Genetic Diversity in European Populations: Evolutionary Evidence and Medical Implications’ in 2014; ‘Genes and the Environment in Obesity’ in 2013) are published every year. Renowned experts in the field are invited to contribute to these special issues.