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Validated All-in-One™ qPCR Primer for SCN9A(NM_002977.3) Search again
Product ID:
HQP016605
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
ETHA, FEB3B, GEFSP7, HSAN2D, NE-NA, NENA, Nav1.7, PN1, SFNP
Gene Description:
sodium voltage-gated channel alpha subunit 9
Target Gene Accession:
NM_002977.3(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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Gene References into function
- mutations in SCN9A cause primary erythermalgia
- We show that mutations in Na(v)1.7 associated with erythermalgia produce a hyperpolarizing shift in activation and slow deactivation, and cause an increased amplitude of the current produced by Na(v)1.7 in response to slow, small polarizations
- familial erythromelalgia is a channelopathy caused by mutations in the gene encoding the Na(v)1.7 sodium channel which lead to altered channel function
- detected missense sequence variants in SCN9A to be present in primary erythermalgia patients
- Nav1.7 is the VGSCalpha most strikingly upregulated (approximately 20-fold) in prostate neoplasms
- primary erythermalgia may be caused by hyperexcitability of nav1.7.
- A single amino acid substitution (L858F) in the DIIS4-S5 linker of Na(v)1.7 was present in two children whose parents were asymptomatic. The asymptomatic father was genetically mosaic for the mutation.
- These results provide a physiologic basis for the linkage to erythermalgia of an Na(v)1.7 mutation that substitutes one uncharged residue for another within an S4 segment of the channel.
- the linker between S4 and S5 in domain I of Nav1.7 modulates gating of this channel, and a larger side chain at position 241 interferes with its gating mechanisms
- Ala863Pro mutant Nav1.7 channels produce hyperexcitability in dorsal root ganglia neurons, which contributes to the pathophysiology of erythromelalgia/erythermalgia.
- An SCN9A channelopathy causes congenital inability to experience pain
- data suggest that SCN9A is an essential and non-redundant requirement for nociception in humans
- A Taiwanese family with the characteristic features of erythromelalgia is described. Genetic linkage studies established that the disease locus maps to human chromosome 2 and a novel mutation SCN9A(I136V)
- results suggest that the enhancement of TTX-sensitive sodium current density in differentiated NG108-15 cells is mainly due to the increase in the expression of the TTX-sensitive voltage-gated Na+ channel, NaV1.7
- A patient represents a typical case of juvenile onset primary familial erythromelalgia, a rare disorder that has been shown in some patients to be caused by a mutation to the SCN9A gene.
- Mutations in SCN9A may mediate variabiilty in lidocaine sensitivity in erythromelalgia patients.
- identified 10 mutations in the SCN9A gene encoding the sodium channel protein Nav1.7 in congenital indifference to pain
- A stop codon mutation in SCN9A causes lack of pain sensation.
- In rectal hypersensitivity, Na(v)1.7 immunoreactive nerve fibres were significantly increased in mucosal, sub-mucosal, and muscle layers
- The contribution of Na(v)1.7 to acquired and inherited pain states and the absence of motor, cognitive and cardiac deficits in patients lacking this channel make it an attractive target for the treatment of neuropathic pain.
- This study describe a boy with erythermalgia whose painful attacks began in infancy. We found a novel mutation of SCN9A.
- VGSC activity has a significant intermediary role in potentiating effect of EGF in human prostate cancer
- highlights of recent developments and discussion of the critical role of Na(v)1.7 in pain sensation in humans [review]
- review: a series of SCN9A mutations resulting in gain-of-function phenotypes presenting with the phenotype of enhanced pain sensitivity.
- review: Congenital Indifference to Pain patients assessed are homozygous or compound heterozygous for nonsense mutations at various locations throughout SCN9A, resulting in an early stop codon
- State- and use-dependent block of neuronal Nav1.7 voltage-gated Na+ channel isoforms by ranolazine is reported.
- The isoleucine-136-valine substitution alters channel gating and kinetic properties, contributing to erythromelalgia.
- alternative splicing of human Na(v)1.7 can specifically modulate the biophysical properties and cAMP-mediated regulation of this channel
- We detected a low SCN9A mutation rate in patients with primary erythermalgia suggesting that pain syndromes in the skin may have a polygenic basis
- the increased axonal expression and augmentation of Nav1.7 at intact and remodeling/demyelinating nodes within the painful human dental pulp
- variations of SCN9A can lead to complete inability to sense pain
- two missense mutations in Nav1.7 in a family with erythermalgia; one of the two variants (L858F) is causal for erythermalgia; the second variant (P610T) may modify the phenotype
- This study demonstrated that mutations within D3/S4-S5 affect inactivation of Nav1.7 in a residue-specific manner and disruption of the fast-inactivated state by these mutations can be more moderate than previously indicated.
- Met1627Lys mutant SCN9A channels render dorsal root ganglion neurons hyperexcitable and provide a link between altered channel biophysics and pain in paroxysmal extreme pain disorder.
- Erythromelalgia and paroxysmal extreme pain disorder mutants(Nav1.7 A1632E)are part of a physiological continuum that can produce a continuum of clinical phenotypes.
- Na(V)1.7 is expressed in aorta after balloon injury, suggesting a potential role for Na(V)1.7 in the progression of intimal hyperplasia