SCN5A is the gene that encodes the cardiac sodium channel Na V 1.5. SCN5A is a highly conserved gene [5] located on human chromosome 3, where it spans more than 100 kb. The …

More than 400 mutations in the SCN5A gene have been identified in people with Brugada syndrome, which is a heart condition characterized by an irregular heart rhythm (arrhythmia). …

2025年3月30日 · SCN5A (Sodium Voltage-Gated Channel Alpha Subunit 5) is a Protein Coding gene. Diseases associated with SCN5A include Sudden Infant Death Syndrome and Long Qt …

This review summarizes the current knowledge of SCN5A genetic variations in different SCN5A-related cardiac disorders and the newly developed therapy strategies potentially useful to …

该基因编码的蛋白质是一种完整的膜蛋白和抗河豚毒素的电压门控钠通道亚基。 这种蛋白质主要存在于心肌中，负责心电图中动作电位的初始上升。 该基因的缺陷与 3 型长 QT 综合征 (LQT3) …

SCN5A is more widely distributed than previously thought and encodes the pore-forming alpha-subunit of the tetrodotoxin-resistant Na+ current in jejunum smooth muscle cells. SCN5A gene …

Gain-of-function mutations in SCN5A lead to more sodium influx into cardiomyocytes through aberrant channel gating and cause long QT syndrome, a primary electrical disease of the heart.

该基因的人类直系同源物与心脏传导疾病有关（多个）；内在性心肌病（多发性）；和婴儿猝死综合症。 与人类 SCN5A（钠电压门控通道 α 亚基 5）同源。 [由基因组资源联盟提供，2022 年 …

2024年12月10日 · Clinical resource with information about SCN5A, Atrial fibrillation, familial, 10, Brugada syndrome 1, Common variants at SCN5A-SCN10A and HEY2 are associated with …

The gene SCN5A encodes the main cardiac sodium channel Na V 1.5. This channel predominates the cardiac sodium current, INa, which underlies the fast upstroke of the cardiac …