SCN5A


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SCN5A

A gene on chromosome 3p21 that encodes an integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel alpha subunit, which is expressed primarily in cardiac myocytes and is responsible beginning the action potential as seen on an ECG/EKG.
 
Molecular pathology
SCN5A mutations are long QT syndrome type 3.
References in periodicals archive ?
The association with SCN5A gene mutations in the long QT syndrome (40) has made some authors recommend using sevoflurane (15,17) as it has no effect on QT length, unlike halothane and isoflurane (41).
Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia.
The SCN5A gene governs the behavior of cardiac sodium ion channels, and mutations in the gene are known to cause long QT syndrome, Brugada syndrome, sudden unexplained nocturnal death syndrome, ventricular fibrillation, congenital sick sinus syndrome, and progressive cardiac conduction defect.
Individuals with asymptomatic BRS with a family history of SCD should be examined for mutations of the SCN5A gene and possible electrophysiologic study (EPS).
The researchers describe a small mutation in SCN5A that appears in two families with this disorder.
The splicing factors RBM25 and LUC7L3 are elevated in human heart failure tissue and mediate truncation of SCN5A mRNA in both Jurkat cells and human embryonic stem cell-derived cardiomyocytes [60].
A study of patients with SUNDS and their families, screened for genetic mutations in SCN5A, the gene known to cause the Brugada syndrome, suggested that SUNDS and the Brugada syndrome are phenotypically, genetically, and functionally the same disorder.
One of the genes, named SCN5A, was known to be involved in controlling how signals start from specialized muscle cells and travel across the heart to cause its rhythmic contractions.
Several mutations in the SCN5A gene on chromosome 3 have been implicated in genetically-derived BS.
Of the 16 LQTS SIDS cases, 8 featured a mutation in SCN5A, 6 in KCNH2, and 2 in KCNQ1.
49,50] SCN5A is highly expressed in human myocardium, but not in skeletal muscle, liver, or uterus.
For example, the mutations in SCN5A are linked to ST-segment elevation in the inferior leads as well as in BrS.