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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 19 Dec 2016.

Sodium channel, voltage-gated, type V, alpha subunit

SCN5A, LQT3, Nav1.5
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. Defects in this gene are a cause of long QT syndrome type 3 (LQT3), an autosomal dominant cardiac disease. Alternative splicing results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: HAD, HERG, KCNQ1, CAN, AGE
Papers on SCN5A
SCN5A(K817E), A Novel Brugada Syndrome-Associated Mutation that Alters the Activation Gating of NaV1.5 Channel.
Nishida et al., Toyama, Japan. In Heart Rhythm, Feb 2016
SCN5A encodes the α-subunit of NaV1.5 voltage-gated Na(+) channel and some of its mutations are linked to BrS.
Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records.
Roden et al., Danville, United States. In Jama, Feb 2016
Variants in SCN5A and KCNH2, disease genes for long QT and Brugada syndromes, were assessed for potential pathogenicity by 3 laboratories with ion channel expertise and by comparison with the ClinVar database.
Risk stratification in Brugada syndrome: Clinical characteristics, electrocardiographic parameters, and auxiliary testing.
Viskin et al., Tel Aviv-Yafo, Israel. In Heart Rhythm, Jan 2016
A history of CA or malignant syncope is a strong predictor of spontaneous ventricular fibrillation (VF), whereas the prognostic value of a history of familial sudden death and the presence of a SCN5A mutation are less well defined.
Common Variant Near HEY2 Has a Protective Effect on Ventricular Fibrillation Occurrence in Brugada Syndrome by Regulating the Repolarization Current.
Kihara et al., Hiroshima, Japan. In Circ Arrhythm Electrophysiol, Jan 2016
METHODS AND RESULTS: SCN10A (rs10428132), SCN5A (rs11708996), and downstream from HEY2 (rs9388451) single-nucleotide polymorphisms were genotyped and compared between 95 Japanese patients with BrS and 1978 controls.
The cardiac sodium channel gene SCN5A and its gene product NaV1.5: Role in physiology and pathophysiology.
Lodder et al., Amsterdam, Netherlands. In Gene, Jan 2016
The gene SCN5A encodes the main cardiac sodium channel NaV1.5.
Regulation of SCN3B/scn3b by Interleukin 2 (IL-2): IL-2 modulates SCN3B/scn3b transcript expression and increases sodium current in myocardial cells.
Tu et al., Wuhan, China. In Bmc Cardiovasc Disord, Dec 2015
METHODS: In the present study, we observed the effect of IL-2 by qRT-PCR on the transcription of ion channel genes including SCN2A, SCN3A, SCN4A, SCN5A, SCN9A, SCN10A, SCN1B, SCN2B, SCN3B, KCNN1, KCNJ5, KCNE1, KCNE2, KCNE3, KCND3, KCNQ1, KCNA5, KCNH2 and CACNA1C.
Nanoscale visualization of functional adhesion/excitability nodes at the intercalated disc.
Delmar et al., New York City, United States. In Nat Commun, Dec 2015
Here we combine nanoscale-imaging (single-molecule localization microscopy; electron microscopy; and 'angle view' scanning patch clamp) with mathematical simulations to demonstrate distinct hubs at the cardiac intercalated disc, populated by clusters of the adhesion molecule N-cadherin and the VGSC NaV1.5.
Brugada syndrome: More than 20 years of scientific excitement.
Brugada, Brussels, Belgium. In J Cardiol, Dec 2015
We showed 6 years later that this disease, known nowadays as Brugada syndrome, was caused by mutations in the SCN5A gene which encodes for the cardiac sodium channel.
The multi-faceted aspects of the complex cardiac Nav1.5 protein in membrane function and pathophysiology.
Salvatore et al., Napoli, Italy. In Biochim Biophys Acta, Oct 2015
The aim of this mini-review is to draw together the main concepts and findings that have emerged from recent studies of the cardiac channel protein Nav1.5.
Genetics of Brugada syndrome.
Minamino et al., Niigata, Japan. In J Hum Genet, Aug 2015
Mutations in SCN5A, encoding the cardiac predominant sodium channel α-subunit, account for 20 to 30% of patients with Brugada syndrome and mutations in other genes only account for about 5% of patients.
Alkaloids from Veratrum taliense Exert Cardiovascular Toxic Effects via Cardiac Sodium Channel Subtype 1.5.
Luo et al., Nanjing, China. In Toxins (basel), 2014
A pathophysiological study indicated that these VAs blocked sodium channels NaV1.3-1.5 and exhibited the strongest ability to inhibit NaV1.5, which is specifically expressed in cardiac tissue and plays an essential role in cardiac physiological function.
Conservation of Ca2+/calmodulin regulation across Na and Ca2+ channels.
Yue et al., Baltimore, United States. In Cell, 2014
For cardiac-muscle channels (NaV1.5),
Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death.
Redon et al., Amsterdam, Netherlands. In Nat Genet, 2013
Brugada syndrome is a rare cardiac arrhythmia disorder, causally related to SCN5A mutations in around 20% of cases.
Long QT syndrome-associated mutations in intrauterine fetal death.
Ackerman et al., Pavia, Italy. In Jama, 2013
LQTS type 2), and SCN5A (NaV1.5,
A voltage-gated sodium channel is essential for the positive selection of CD4(+) T cells.
Allen et al., Saint Louis, United States. In Nat Immunol, 2012
SCN5A-SCN4B were found to be essential for positive selection of CD4(+) T cells.
Effect of skeletal muscle Na(+) channel delivered via a cell platform on cardiac conduction and arrhythmia induction.
Rosen et al., New York City, United States. In Circ Arrhythm Electrophysiol, 2012
SkM1 biophysical properties in mesenchymal stem cells are more favorable than SCN5A in restoring fast conduction in depolarized tissue.
Multifocal ectopic Purkinje-related premature contractions: a new SCN5A-related cardiac channelopathy.
Probst et al., Dijon, France. In J Am Coll Cardiol, 2012
A new SCN5A-related cardiac syndrome, multifocal ectopic Purkinje-related premature contraction (MEPPC) was identified. The SCN5A mutation leads to a gain of function of the sodium channel responsible for excitability of the fascicular-Purkinje system.
Genetic variation in T-box binding element functionally affects SCN5A/SCN10A enhancer.
Christoffels et al., Amsterdam, Netherlands. In J Clin Invest, 2012
identification of enhancers in the Scn5a/Scn10a locus, regulated by TBX3 and TBX5
TBX5 drives Scn5a expression to regulate cardiac conduction system function.
Moskowitz et al., Chicago, United States. In J Clin Invest, 2012
a TBX5-responsive enhancer downstream of Scn5a is sufficient to drive ventricular conduction system expression in vivo, dependent on canonical T-box binding sites
Genome-wide association study of PR interval.
Heckbert et al., München, Germany. In Nat Genet, 2010
locus, we observed two independent associations in voltage-gated sodium channel genes, SCN10A and SCN5A.
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