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Validated All-in-One™ qPCR Primer for SCN1B(NM_001037.4) Search again
Product ID:
HQP053902
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
ATFB13, BRGDA5, DEE52, EIEE52, GEFSP1
Gene Description:
sodium voltage-gated channel beta subunit 1
Target Gene Accession:
NM_001037.4(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 essential for the generation and propagation of action potentials in striated muscle and neuronal tissues. Biochemically, they consist of a large alpha subunit and 1 or 2 smaller beta subunits, such as SCN1B. The alpha subunit alone can exhibit all the functional attributes of a voltage-gated Na+ channel, but requires a beta-1 subunit for normal inactivation kinetics.[supplied by OMIM].
Gene References into function
- Mutation of the sodium channel subunit SCN1B linked again to generalized epilepsy with febrile seizures
- Functional and biochemical analysis of a sodium channel beta1 subunit mutation responsible for generalized epilepsy with febrile seizures plus type 1.
- the expression of NaCh beta1 subunit protein in astrocytes is plastic, and indicate a novel mechanism for modulation of glial function in gliosis-associated pathologies.
- The IVS2-2A>C transition deletes AA 70-74 in the central hydrophobic core of the extracellular Ig domain, disrupting the hydrophobic interaction in the Ig-like fold & proper [beta]1 folding & causing a persistent inward Na+ current & hyperexcitability.
- identification and characterization of a novel splicing variant; functional studies in oocytes demonstrate that the beta1B subunit increases the ionic current when coexpressed with the tetrodotoxin sensitive channel, NaV1.2
- Although data suggest that SCN1B activity does not directly influence membrane potential, intracellular Ca(2+) release, or proliferation in normal human pulmonary artery smooth muscle cells, its physiological functions remain unresolved.
- Use of these Na+ channel models in simple neuron models revealed that both mutations(R85C, R85H) cause an increase in excitability but the R85H mutation was more excitable.
- In summary, the mutant beta1 subunits essentially fail to modulate alpha subunits which could increase neuronal excitability and underlie GEFS+ pathogenesis.
- This suggests that mutations in the SCN1B gene is not a prevalent cause of familial cases of FS and epilepsy or GEFS+ in Scandinavia.
- SCN1B mutations were not found to directly cause long QT syndrome.
- In patient with epilepsy were carried the mutation (C121W) of SCN1B.
- Febrile Seizure is not related to the most common mutations of SCN1B in two Tunisian families
- SCN1B may have a role in human arrhythmia susceptibility