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Validated All-in-One™ qPCR Primer for SCN4A(NM_000334.4) Search again
Product ID:
HQP016598
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
CMS16, CMYP22A, HOKPP2, HYKPP, HYPP, NAC1A, Na(V)1.4, Nav1.4, SkM1
Gene Description:
sodium voltage-gated channel alpha subunit 4
Target Gene Accession:
NM_000334.4(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
Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits.
Gene References into function
- identified the Met1592Val mutation of SCN4A in an affected descendent of the original normokalemic periodic paralysis (normoKPP) family
- V1442E mutation in SCN4A defines a novel disease mechanism and a novel phenotype with myasthenic features.
- charged residues in the DIII-DIV linker may interact with structures that control slow inactivation in the voltage-gated sodium channel (hNa(V)1.4) (nav1.4)
- Cold exacerbation in two paramyotonia congenita mutant NaV1.4 channels R1448C and T1313M arises from a combination of biophysical defects that increase hyperexcitability at low temperatures.
- fast inactivation of the Na(+) channel involves both S4-S5 loops in D3 and D4 in a cooperative manner and D3/S4-S5 also plays an important role in activation and deactivation
- A novel SCN4A Arg672Cys mutation and a known CACNL1A3 Arg528His mutation were identified in in Korean hypokalemic periodic paralysis patients
- 3 new mutations were found in codon 675: an AA substitution of a highly conserved Arg to either a Gly, a Gln or a Trp. Hypokalemic periodic paralysis is caused by mutations affecting nearby codons as well as the change of an Arg into another AA.
- Fast inactivation and deactivation gating were compared between wild-type human voltage-gated skeletal muscle sodium channel (hNaV1.4) and potassium-aggravated myotonia (PAM) mutations G1306A, G1306E, and G1306V.
- Method in which voltage dependence of voltage-gated ion channel blockers can be compared using a protocol in which voltage error is compensated for in real time.
- We identified a novel hypokallemic periodic paralysis type 2 mutation that neutralizes an arginine residue in DIII-S4 (R1132Q), and studied its functional consequences in HEK cells transfected with the human SCN4A cDNA.
- Deactivation gating relies on charged ammino-acids in DIIIS4 domain.
- present study has revealed a heterozygous A1481D (c.4442 C>A) missense mutation in the SCN4A gene, which was identified in family members affected with cold-aggravated myotonia in a large German kindred
- Warm-up phenomenon in myotonia associated with the V445M sodium channel mutation.
- HyperPP was suspected by means of clinical features and provocative testing, it was sequential genetic analysis that corroborated the diagnosis and identified a de novo mutation in the SCN4A gene.
- These results indicate that, in these paramyotonia congenita patients, mutant and wild-type sodium channels respond equally to cold exposure.
- Consistent with other NaV1.4 mutations associated with a paralytic phenotype, the P1158S mutation disrupts slow inactivation. The unique temperature sensitivity of the channel defect may contribute to the unusual clinical phenotype.
- A large cohort of French-Canadians with a founder SCN4A mutation causing painful cold-induced myotonia underlines the phenotypic heterogeneity of SCN4A mutations with variants in other genes such as CLCN1 that are likely to modulate clinical expression.
- In addition to Val-781-Ile and Met1592Val, the mutation g2101a (Arg675Gln) may be the novel mutation of SCN4A genes in Chinese patients with normoKPP.
- State- and use-dependent block of muscle Nav1.4 voltage-gated Na+ channel isoforms by ranolazine is reported.
- This study identifies two new mutations(R1448L and L1436P) confirms SCN4A as a common cause of paramyotonia congenita in the UK.
- The mechanism of calmodium modulation of Nav1.4 expression an function were studied.
- HyperPP is caused by mutations in the SCN4A gene that encodes the subunit of the NavCh Nav1.4 in skeletal muscles.
- CLCN1 and SCN4A mutation occurrence is associated with non-dystrophic myotonia.
- study investigated effects of paramyotonia congenita mutations F1473S and F1705I on gating of skeletal muscle Na+ channels; results suggest that the DIV S4-S5 linker mutation F1473S promotes the hyperpolarized position of DIVS4 to accelerate recovery
- Results decribe the Thr704Met point mutation in the SCN4A gene in hyperkalemic periodic paralysis.
- A novel dominant mutation of the Nav1.4 alpha-subunit domain I leading to sodium channel myotonia.