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Validated All-in-One™ qPCR Primer for SCN5A(NM_198056.2) Search again
Product ID:
HQP016602
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
CDCD2, CMD1E, CMPD2, HB1, HB2, HBBD, HH1, ICCD, IVF, LQT3, Nav1.5, PFHB1, SSS1, VF1
Gene Description:
sodium voltage-gated channel alpha subunit 5
Target Gene Accession:
NM_198056.2(click here to view gene page)
Estimated Delivery:
Approximately 1-3 weeks, but may vary. Please email sales@genecopoeia.com or call 301-762-0888 to confirm ETA.
Important Note:
By default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Validated result:
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| A | B |
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Each All-in-One™ qPCR Primer is experimentally validated to yield a single dissociation curve peak and to generate a single amplification of the correct size for the targeted gene. A cDNA Pool, containing reverse transcript products of 8 different human tissue total RNA(Liver, Testis,Muscle,Thyroid,Brain,Spleen,Stomach,Small Intestine)),was used as the qPCR validation template. qPCR was performed using 0.2 µM primer with 2XAll-in-One™ qPCR Mix (Catalog#: QP001,QP002,QP004,QP005). Reactions were incubated for 10min. at 95°C, followed by 40 cycles of 95°C for 10 sec.; 60°C, 20 sec. and 72°C, 15sec. using Bio-Rad iQ5™ Instrument. At the end of the last cycle, temperature was increased from 72 to 95°C to produce a melting curve. Panel A: Validated Result for Amplification Curve; Panel B: Validated Result for Melting Curve. |
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Summary
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.
Gene References into function
- A G-to-T mutation at position 4372 was identified by direct sequencing and was predicted to change a glycine for an arginine (G1406R) between the DIII-S5 and DIII-S6 domain of the SCN5A sodium channel protein.
- Results support the concept that loss of function of the cardiac Na(+) channel is responsible for the Brugada syndrome.
- Mutation analysis seems to show SUNDS of Asia and Brugada syndrome of Europe are phenotypically and genetically the same.
- Associated with Brugada syndrome, but patients may not have known mutation.
- three new SCN5A mutations in Brugada syndrome patients are all located within domain I of SCN5A, a region not previously considered important in the development of ventricular arrhythmias
- Longer conduction intervals on baseline ECG were observed in patients with established SCN5A mutations. Brugada-syndrome patients with and without SCN5A mutations can be differentiated by phenotypical differences.
- identified a variant of the cardiac sodium channel gene SCN5A that is associated with arrhythmia in African Americans and linked with arrhythmia risk in an African-American family
- Drug-induced long-QT syndrome associated with a subclinical SCN5A mutation
- 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.
- regulation of gating by syntrophin gamma 2
- Early & late openings in cell-attached patches expressing human cardiac NaCh alpha-subunit & in ventricular cells of one normal & three failing human hearts showed that the late current is generated by a single population of channels in both.
- SNP S1103Y in the cardiac sodium channel gene SCN5A is associated with cardiac arrhythmias and sudden death in a white family
- Familial Atrial standstill was associated with the concurrence of a cardiac sodium channel mutation and rare polymorphisms in the atrial-specific Cx40 gene
- SCN5A mutation is modulated by the SCN5a polymorphism in humans
- Congenital long QT syndrome and 2:1 atrioventricular block may be due to mutation of the SCN5A gene (LQT3).
- Another gene other than the SCN5A may be associated with Brugada syndrome.
- missense mutations in KCNQ1 and SCN5A in a case of congenital Long QT Syndrome
- Four variants of SCN5A are present in human myocardium and exhibit functional differences having implications for the choice of background sequence for experiments with heterologous expression systems, and possibly electrophysiological function in vivo
- A base sequence deletion in SCN5A causes long QT syndrome in two family members.
- SCN5A the gene encoding the pore-forming subunit of the cardiac Na+ channel, have been associated with cardiac rhythm syndromes.
- Mutations in the SCN5A gene encoding the cardiac voltage-gated Na+ channel (hNav1.5) are associated with Brugada syndrome.
- Na(v)1.5 can be ubiquitinated in heart tissues and that the ubiquitin-protein ligase Nedd4-2 acts on Na(v)1.5 by decreasing the channel density at the cell surface. The effect of Nedd4-2 requires the PY-motif of Nav1.5.
- Two novel SCN5A mutations have been found in Japanese patients with Brugada syndrome.
- SCN5A gene is not commonly involved in the pathogenesis of the Brugada Syndrome and associated disorders.
- Calmodulin mediates Ca2+ sensitivity of Nav1.2 and Nav1.5 sodium channels
- report of a novel mutation in SCN5A associated with Brugada syndrome in Koreans
- A heterozygous G-to-A mutation at position 3823(D1275N) in a highly conserved residue of exon 21 is associated with an autosomal dominant cardiac conduction disorder, sinus node dysfunction, arrhythmia, ventricular dilatation & dysfunction.
- Acute and chronic cell hypoxia regulate sodium currents by recombinant hNa(v)1.5 alpha.
- ankyrin-G participates in a common pathway for localization of voltage-gated Na(v) channels at sites of function in multiple excitable cell types
- Phenylalanine deletion alters the voltage dependence of fast inactivation via a reduction in the gating charge.
- Heritable SCN5A defects are associated with susceptibility to early-onset DCM and atrial fibrillation. Similar or even identical mutations may lead to heart failure, arrhythmia, or both.
- Chimeric channels of NaV1.4 and NaV1.5 also indicated that the C-terminal domain is largely responsible for calmodulin effects on inactivation
- mechanisms for S1759 involvement in slow inactivation and for antagonism between fast and slow inactivation
- A novel intronic mutation in the SCN5A gene in a large family with Brugada syndrome was identified.
- Brugada syndrome is an inherited cardiac disorder caused by mutations in the SCN5A gene encoding the cardiac sodium channel alpha-subunit, and potentially leads to ventricular fibrillation and sudden death.
- a human cardiac sodium channel mutation(E161K) may have a role in sick sinus syndrome, conduction disease and Brugada syndrome
- The Y1102 allele is a risk factor in blacks for sudden cardiac death in the absence of obvious morphological findings or mild to moderate cardiomegaly.
- Up-regulation of neonatal Na(v)1.5 occurs as an integral part of the metastatic process in human breast cancer
- These results suggest that SCN5A has a newly identified exon for alternative splicing and is more widely expressed than previously thought.
- This suggests that genetic determinants located in KCNQ1, KCNE1, KCNH2 and SCN5A influence QTc length in healthy individuals and may represent risk factors for arrhythmias or cardiac sudden death in patients with cardiovascular diseases.
- Genetic defects in SCN5A most likely underlie atrial standstill.
- Data demonstrate that the double mutations at the 409 and 410 sites in cardiac Na(+) channels induce inactivation-deficient sodium currents (INa) and that n-3 polyunsaturated fatty acids inhibit mutant I(Na).
- dynamic action potential clamp data directly demonstrate the arrhythmogenic nature of LQT3-associated SCN5A mutations
- new mechanism in the drug-induced long-QT syndrome also strongly supports the concept that variable cell surface expression contributes to clinical variability in the LQT3 phenotype
- Brugada plus bradyarrhythmias type of overlap syndrome was caused by single SCN5A mutations that result in a complete loss-of-function in cardiac Na channels.
- Mutations in the SCN5A gene, identified in 4 of the 18 patients with Brugada syndrome, may have induced concealed structural abnormalities of myocardiocytes that accounted for paroxysmal arrhythmic manifestations.
- genetically determined variable sodium channel transcription occurs in the human heart and is associated with variable conduction velocity, an important contributor to arrhythmia susceptibility
- Mutations in the SCN5A gene can cause Brugada syndrome, a genetically inherited form of idiopathic ventricular fibrillation.
- data show that mutant SCN5A channels operate normally under baseline conditions in vitro but abnormally under reduced pH conditions; findings suggest that infants with 2 copies of S1103Y have a 24-fold increased risk for sudden infant death syndrome
- describes a novel splice variant of Na1.5 that could be detected in all human heart RNA samples investigated; characterized by altered Na+ current amplitude and gating
- comprehensive model is proposed in which the hH1 IQ motif serves as a molecular switch, coupling the intrinsic and extrinsic calcium sensors
- These data show that a trafficking defect (SCN5A mutation) may be partial and time dependent and may differ with the splice variant background. Expression defects and gating abnormalities may contribute to loss of function for the same mutation.
- Human genetic studies have identified mutations in the sodium channel SCN5A gene causing tachyarrhythmia disorders, as well as progressive cardiac conduction system diseases, or overlapping syndromes.
- We propose that D2-S6 in hNav1.5 undergoes molecular rearrangement during slow inactivation exposing the side chain of residue 930 such that it becomes accessible to modification by MTSEA.
- 14-3-3 protein is a novel component of the cardiac Na(v)1.5 channel acting as a cofactor for the regulation of the cardiac sodium ion current.
- Data show that the varied effects of beta1 and beta2 on Nav1.5 and Nav1.2 gating are apparently synergistic and highlight the complex manner, through subunit- and sugar-dependent mechanisms, by which Nav activity is modulated.
- Dystrophin protein complex is required for the proper expression and function of Na(v)1.5 in mice.
- The R282H-SCN5A mutation in the sodium channel gene was identified in patients with Brugada syndrome.
- We demonstrate that a pH-independent current is found in Na(V)1.4, but not in the cardiac isoform (Na(V)1.5).
- The findings also suggest how Brugada syndrome and PCCD which both result from loss of sodium channel function are sometimes present alone and at other times in combination.
- Persons who inherit polymorphisms of the SCN5A gene have a loss of function mutation of the gene and more severe forms of Brugada syndrome.
- The protein tyrosine phosphatase PTPH1 binds to the PDZ-domain binding motif of the cardiac voltage-gated sodium channel Na(v)1 and regulates the activity of Na(v)1.
- The AP abnormalities induced by Y1795H and Y1795C can explain the clinically observed surface ECG phenotype.
- local anesthetic's (LA) cationic group and a Na+ ion in the selectivity filter repel each other suggesting that the Na+ depletion upon slow inactivation would stabilize a LA, while a LA would stabilize slow-inactivated states
- Compound heterozygous mutations Pro336Leu and Ile1660Val of SCN5A modulate the phenotypic expression and penetrance of Brugada syndrome.
- The SCN5A (W1191X) mutation is associated with Brugada syndrome and resulted in the loss of function of the cardiac sodium channel.
- Six novel mutations--4 in ANK2, 1 in KCNQ1, and 1 in SCN5A--were found in the patients with torsades de pointes.
- a novel threonine-to-isoleucine missense mutation at position 353 (T353I) adjacent to the pore-lining region of domain I of the cardiac sodium channel (SCN5A) in a family with Brugada syndrome
- Residue hNav1.5-S401 at D1S6 is facing the inner cavity and is in close proximity to the receptor sites for batrachotoxin and for local anesthetics.
- We demonstrated that 9.5% of cases diagnosed as SIDS carry functionally significant genetic variants in LQTS genes (KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2, KCNJ2, CAV3).
- Our present results greatly expand the spectrum of functionally characterized SCN5A variants associated with sudden infant death syndrome and provide further biophysical correlates of arrhythmia susceptibility in this syndrome.
- Study confirms that some Brugada syndrome patients without exonic mutations in SCN5A had no other SCN5A abnormalities, including any involving the location of the SCN5A protein.
- A common SCN5A polymorphism, S524Y, can enhance a use-dependent block by class Ia and Ic antiarrhythmic agents.
- Electrostatic repulsion is critical component of the mechanism of local anesthetic block of the SCN5A sodium channel.
- Human heart Nav1.5 pore alpha-subunit in xenopus oocytes measure small macroscopic currents in cell-attached patches.
- The positions of the S4s in domains III and IV of SCN5A are major determinants of the voltage dependence of lidocaine affinity.
- In Australians <35 years with a negative autopsy at sudden death, nine DNA sequence variants were identified int he SCN5A gene.
- We demonstrate that the cardiac voltage-gated sodium channel, NaV1.5, is expressed on the late endosome in human monocyte-derived macrophages.
- Finds evidence that large genomic rearrangements in SCN5A are not associated with Brugada syndrome.
- mutations in SCN5A gene, which codes the alpha-subunit of the sodium channel Na(v)1.5 makes it possible to more fully consider possible ways of the development of cardiac rhythm disorders and use the most optimal methods for their treatment.
- Results suggest that a subclinical mutation in SCN5A resulting in a loss of function may predispose to life-threatening arrhythmias during acute ischemia.
- conduction slowing was more marked and more progressively accentuated in Brugada probands with SCN5A mutation than in those without SCN5A mutation.
- The DIIIS4-S5 linker is a new region involved in slow inactivation of Na(v)1.5. The biophysical alterations of the G1319V mutation all contribute to a reduction in I(Na), in line with the proposed mechanism underlying Brugada syndrome.
- The SCN5A mutation has a marked loss-of-function and unique phenotype of sick sinus syndrome, cardiac conduction disorder and ventricular tachycardia with incomplete penetrance.
- chronic HF was associated with an increase in 2 truncated SCN5A variants and a decrease in the native mRNA
- V930 in D2-S6 appears to be an important structural determinant of slow inactivation gating.
- A GPD1-L mutation decreases SCN5A surface membrane expression, reduces inward Na+ current, and causes Brugada syndrome
- REVIEW of role of SCN5a mrna levels and mrna genetic variation in congestive heart failure
- the divergent biophysical defects caused by 2 different SCN5A mutations associated with familial dilated cardiomyopathy.
- Describe combination of cardiac conduction disease and long QT syndrome caused by mutation T1620K in the cardiac SCN5A sodium channel.
- Functionally significant mutations and rare variants in SCN5A may contribute to sudden cardiac death risk among women
- The researchers found a single SCN5A mutation association with arrhythmia in a familial cohort with atrial fibrillation, which suggests this variation in the SCN5A gene is not a significant cause of familial atrial fibrillation
- reports the case of a family in which the occurrence of Brugada syndrome and isolated cardiac conduction disease could be due to the P1438L SCN5A mutation, but also to the accidental association of both diseases.
- in cardiomyocytes, MOG1 is mostly localized in the cell membrane and co-localized with Nav1.5, indicating that MOG1 is a critical regulator of sodium channel function in the heart
- SCN5A R1193Q polymorphism associated with progressive cardiac conduction defects and long QT syndrome in a Chinese family.
- Mutations of the C-terminal domain of SCN5A alter the inactivation of the channel and support the notion that conduction alterations may play a significant role in the pathogenesis of Brugada syndrome.
- SCN5A, a gene encoding the cardiac sodium channel, has been reported to be causally related to BrS
- The 87A allele might be associated with an increased risk of idiopathic ventricular arrhythmia in females, whereas 1673G allele might have been positively selected because of its protective effects against ventricular arrhythmia in males.
- The left ventricular noncompaction patients with heart failure also had high occurrence of SCN5A variants, suggesting the presence of SCN5A variants and/or arrhythmias increase the severity of LVNC.
- 8 new variants affecting higly conserved residues were identified. The new variants cosegregated with AF. 11 rare missense variants were also seen. Mutations or rare variants in SCN5A may predispose patients w/wo underlying heart disease to AF.
- Results provide an electrophysiological comparison of 'neonatal' and 'adult' isoforms of Nav1.5, and describe the critical involvement of a lysine residue.
- telethonin is a sodium channel-interacting protein, and its mutations can alter Na(v)1.5 kinetics and may play a role in intestinal pseudo-obstruction
- overview of current knowledge on SCN5A mutations associated with sodium channel overlap syndromes [review]
- the E1784K mutation in SCN5A may have a role in mixed clinical phenotype of type 3 long QT syndrome
- This study provides an independent assessment of the prevalence of S1103Y-SCN5A among African-American infants with sudden, unexpected, unexplained death prior to their first birthday
- In Brugada syndroms subepicardial phase 0 block and discontinuous transmural conduction underlie right precordial ST-segment elevation by a SCN5A loss-of-function mutation.
- It is unlikely that an intragenic interaction between R1232W and T1620M of SCN5A causes a trafficking defect leading to a non-functioning Na channel
- These results establish an SNTA1-based nNOS complex attached to SCN5A as a key regulator of sodium current and suggest that SNTA1 be considered a rare long QT syndrome-susceptibility gene.
- Report cardiac SCN5A gene mutations in sudden infant death syndrome.
- The independence of the effects of ProTxII on activation and inactivation of sodium channels is reported.
- The effect of 3 ion channel gene single nucleotide polymorphisms (SNPs), rs1805127, rs727957 KCNE1, and rs1805124 SCN5A, on T-wave alternans during a clinical exercise test, was examined.
- Report the irreversible block of cardiac mutant Nav1.5 channels by batrachotoxin.
- A novel LQT-3 mutation in SCN5A disrupts an inactivation gate complex with distinct rate-dependent phenotypic consequences.
- In post-MI patients two exonic polymorphisms, H558R in SCN5A and S38G in KCNE1, were detected. H558R was associated with an increase in QT dispersion at minimum and maximum heart rate and QT interval prolongation before premature ventricular beats.
- SCN5A/R43Q variant, although it per se does not prolong repolarization, contributes to the development of ventricular tachyarrhythmias after lidocaine.
- SCN5A mutation causes a familial form of atrial fibrillation without any underlying structural heart disease.
- This is the first report showing an association of familial AF and LQT-3 due to a mutation in SCN5A
- Expression of skeletal SkM1 but not cardiac SCN5A Na+ channel isoform preserves normal conduction in a depolarized cardiac syncytium.
- G298S-SCN5A missense mutation caused a marked reduction of whole cell Na(+) current and loss of function of Na(v)1.5, suggesting SCN5A as a candidate gene in the pathophysiology of irritable bowel syndrome.
- sequence variations in the 3' untranslated region (3'UTR) and 5' untranslated region (5'UTR) of the SCN5A gene were observed in sudden unexplained death
- A novel SCN5A coding variant, K1493R, located six amino acids downstream from the fast inactivation motif of sodium channels was idetified in atrial fibrillation.