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 ?
A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation.
Selective localization of cardiac SCN5A sodium channels in limbic regions of rat brain.
Long QT syndrome patients with mutations of the SCN5A and HERG genes have differential responses to [Na.
Taken together, the flaws in HERG and SCN5A account for about 75 percent of all cases of long QT syndrome, the researchers believe.
This novel screening method disclosed that 9 patients and 2 healthy individuals had various heterozygosities in the SCN5A gene.
2+]-cyclen for 1 SCN5A gene (98 DNA fragments) was less than $4.
In addition, the inhomogeneity of SCN5A expression has been hypothesized to lead to development of both premature ventricular contractions (PVCs) and serious ventricular arrhythmias.
In addition, they found that the abnormality in SCN5A was demonstrable in only 15% of affected individuals.
The 29 probands without mutations in KCNH2 were also screened for mutations in KCNQ1, KCNE1, and SCN5A, and several additional mutations were found (M.
The FAMILION DCM Test sequences 12 genes (LMNA, ANKRD1, TNNC1, SCN5A, TPM1, MYBPC3, ACT1, LDB3, PLN, MYH7, TNNT2, TNNI3) and is performed in a CLIA-certified commercial laboratory that meets all applicable state and federal guidelines.