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 gene consists of 28 exons, of which exon 1 and in part exon 2 form the 5' untranslated region (5’UTR) and exon 28 the 3' untranslated region (3’UTR) of the RNA.

The SCN5A gene belongs to a family of genes that provide instructions for making sodium channels. Learn about this gene and related health conditions.

The SCN5A gene encodes the alpha subunit of the main cardiac sodium channel Na v 1.5. This channel predominates inward sodium current (INa) and plays a critical role in regulation of cardiac electrophysiological function.

SCN5A gene encodes the pore-forming ion-conducting α-subunit of the cardiac sodium channel (Na v 1.5), which is responsible for the initiation and propagation of action potentials and thereby determines cardiac excitability and conduction of electrical stimuli through the heart.

Splawski et al. (2002) identified a common variant of the SCN5A gene, ser1103 to tyr (S1103Y; 600163.0024), which is present in 13.2% of African Americans and is associated with accelerated channel activation, increasing the likelihood of abnormal cardiac repolarization and arrhythmia.

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 action potential. As such, it plays a crucial role in cardiac electrophysiology.

2024年12月25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 Syndrome 3. Among its related pathways are Activation of cAMP-Dependent PKA and Neuropathic Pain-Signaling in Dorsal Horn Neurons.

SCN5A gene mutation and abnormality is associated with long Qt syndrome development. The slowly conducting embryonic phenotype is maintained in fetal and adult right ventricular outflow tract and is unmasked when SCN5A function is reduced.

2024年10月28日 · The SCN5A gene encodes the alpha subunit of the cardiac sodium channel, which plays a fundamental role in the generation and propagation of the action potential in the heart muscle. During the past years our knowledge concerning the function of the cardiac sodium channel and the diseases caused by m …

We describe a family where the individuals exhibit a compound heterozygosity in the SCN5A gene including a mutation (R1632H) and a new variant (M858L). Individuals with both the mutation and new variant present with a more severe phenotype including spontaneous atrial tachyarrhythmia at …

2024年12月10日 · The protein encoded by this gene is an integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel subunit. This protein is found primarily in cardiac muscle and is responsible for the initial upstroke of the action potential in an electrocardiogram.

2020年11月9日 · E1784K-SCN5A is the most common SCN5A mutation identified. We determined the association of a BrS genetic risk score (BrS-GRS) and SCN5A mutation type on BrS phenotype in BrS families with SCN5A mutations.

2023年5月1日 · The sodium channel family comprises a total of nine genes (SCN1A-SCN5A, SCN7A-SCN11A), of which the SCN5A gene located on human chromosome 3p22 encodes Nav1.5, the pore-forming alpha subunit of the cardiac sodium channel.

The Sodium and Calcium Channel Arrhythmia Variant Curation Expert Panel (VCEP) will focus on the curation and interpretation of genetic variants in the SCN5A gene. SCN5A encodes the cardiac voltage-gated sodium channel NaV1.5, which plays a critical role in the initiation and propagation of the cardiac action potential.

A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt.

The SCN5A gene belongs to a family of genes that provide instructions for making sodium channels. These channels open and close at specific times to control the flow of positively charged sodium atoms (sodium ions) into cells.

2024年12月10日 · The protein encoded by this gene is an integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel subunit. This protein is found primarily in cardiac muscle and is responsible for the initial upstroke of the action potential in an electrocardiogram.

2025年3月24日 · Background. SCN5A is the most common susceptibility gene in patients with Brugada syndrome (BrS); however, the interpretation and management of benign or variants of unknown clinical significance (VUS) in SCN5A remains a challenge despite the availability of genetic testing.. Objective. This study aimed to investigate the relationship between the …

Mutations in the gene encoding the main cardiac sodium channel (SCN5A) are the commonest genetic cause of Brugada syndrome (BrS). However, the effect of SCN5A mutations on the outcomes of ventricular fibrillation (VF) and syncope remains uncertain.

2018年5月1日 · SCN5A gene encodes the pore-forming ion-conducting α-subunit of the cardiac sodium channel (Na v 1.5), which is responsible for the initiation and propagation of action potentials and thereby determines cardiac excitability …

2024年11月2日 · The SCN5A gene encodes the α-subunit of the cardiac sodium channel (Na v 1.5), which conducts the fast depolarizing sodium current (I Na) in the heart.

In this review, we show how the SCN5A mutation status predicts phenotypic characteristics and prognosis in patients with BrS. We conclude that SCN5A mutations weakly predict greater malignant arrhythmic event risk in BrS patients.

2025年3月3日 · Due to the crucial role of the Na V 1.5 channel in cardiac AP, many mutations in the SCN5A gene are associated with inherited arrhythmogenic diseases (IADS), including long QT syndrome type 3 (LQT3), Brugada syndrome (BrS), sick sinus syndrome (SSS), dilated cardiomyopathy (DCM), atrial fibrillation (AF), and progressive cardiac conduction ...