Aperçu des produits pour SCN8A (SCN8A) Kits ELISA

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Sodium Channel, Voltage-Gated, Type VIII, alpha Kits ELISA (SCN8A)
Chez www.anticorps-enligne.fr sont 1 Sodium Channel, Voltage-Gated, Type VIII, alpha (SCN8A) Kits ELISA de 1 de différents fournisseurs disponibles. De plus, nous expédions SCN8A Anticorps (52) et SCN8A Protéines (11) et beaucoup plus de produits pour cette protéine. Un total de 70 SCN8A produits sont actuellement listés.
Synonymes:
AI853486, C630029C19Rik, CERIII, CIAT, dmu, EIEE13, med, mnd-2, mnd2, NaCh6, Nav1.6, nmf2, nmf58, nmf335, nur14, PN4, seal
list all ELISA KIts Gène GeneID UniProt
SCN8A 6334 Q9UQD0
Rat SCN8A SCN8A 29710 O88420
Souris SCN8A SCN8A 20273 Q9WTU3

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Plus Kits ELISA pour SCN8A partenaires d'interaction

Human Sodium Channel, Voltage-Gated, Type VIII, alpha (SCN8A) interaction partners

  1. This study demonstrated that SCN8A - I1327V is a gain-of-function mutation with altered features that are predicted to increase neuronal excitability and seizure susceptibility. Phenytoin is an effective inhibitor of the mutant channel and may be of use in treating patients with gain-of-function mutations of SCN8A.

  2. Epilepsy-associated mutations in the voltage-gated sodium channel Nav1.6, but not Nav1.1 (Montrer SCN1A Kits ELISA), upregulate resurgent currents; cannabidiol preferentially targets these currents.

  3. Either the FGF14 (Montrer FGF14 Kits ELISA)(V160A) or the FGF14 (Montrer FGF14 Kits ELISA)(K74A/I76A) mutation was sufficient to abolish the FGF14 (Montrer FGF14 Kits ELISA)-dependent regulation of peak transient Na(+) currents and the voltage-dependent activation and steady-state inactivation of Nav1.6; but only V160A with a concomitant alanine mutation at Tyr (Montrer TYR Kits ELISA)-158 could impede FGF14 (Montrer FGF14 Kits ELISA)-dependent modulation of the channel fast inactivation.

  4. we report an infant and his father with early onset focal epileptic seizures but without cognitive or neurological impairment in whom next generation sequence analysis identified a heterozygous mutation (c.5630A > G, p. (Asn1877Ser)) in the SCN8A gene

  5. the calpain-dependent cleavage of Nav1.6 channels expressed in human embryonic kidney (HEK) 293 cells caused the upregulation of I(NaP)

  6. Our study establishes SCN8A as a novel gene in which a recurrent mutation causes BFIS/ICCA, expanding the clinical-genetic spectrum of combined epileptic and dyskinetic syndromes.

  7. Human Nav1.6 channels generate larger resurgent currents than human Nav1.1 (Montrer SCN1A Kits ELISA) channels, but the SCN4B (Montrer SCN4B Kits ELISA)-derived Navbeta4 (Montrer SCN4B Kits ELISA) peptide does not protect either isoform from use-dependent reduction.

  8. These data strengthen previous findings linking gain-of-function mutations of SCN8A with EIEE and demonstrate the importance of functional testing in establishing the pathogenicity of de novo mutations.

  9. Expression profiling of SCN8A and NDUFC2 (Montrer NDUFC2 Kits ELISA) genes in colorectal carcinoma is reported. There was no NDUFC2 (Montrer NDUFC2 Kits ELISA) differential expression in colorectal carcinoma.

  10. Epileptic encephalopathy related to mutations in the SCN8A genes.

Mouse (Murine) Sodium Channel, Voltage-Gated, Type VIII, alpha (SCN8A) interaction partners

  1. The data of this study support the view that gain-of-function mutations of SCN8A lead to pathogenic alterations in brain function contributing to encephalopathy.

  2. The clinical phenotype of the severe hypomorphic sodium channel gene SCN8A mutant expands the spectrum of Scn8a disease to include a recessively inherited, chronic and progressive movement disorder.

  3. the presences of Nav1.1 (Montrer SCN1A Kits ELISA), Nav1.6, Navbeta1 and Navbeta3 mRNA and their reduced levels in rat SAN during aging.

  4. This study demonstrates that Nav channel expression in lumbar motoneurons is altered after SCI, and it shows a tight relationship between the calpain-dependent proteolysis of Nav1.6 channels, the upregulation of I(NaP (Montrer CTNNBL1 Kits ELISA)) and spastici

  5. the role of Nav1.6 in general anesthesia using two mouse mutants with reduced activity of Nav1.6, was examined.

  6. observed increased hippocampal pyramidal cell excitability in heterozygous and homozygous Scn8a-R1627H mutants, and decreased interneuron excitability in heterozygous Scn8a-R1627H mutants.

  7. The data support a model where ankyrinG (Montrer ANK3 Kits ELISA)-binding is required for preferential Nav1.6 insertion into the axon initial segment plasma membrane during development.

  8. the degenerating muscle mutation is a loss of function mutation of scn8a

  9. N1768D mutation of SCN8A is sufficient to induce seizures and SUDEP in knock-in mice.

  10. APP (Montrer APP Kits ELISA) enhances Nav1.6 sodium channel cell surface expression through a Go-coupled JNK (Montrer MAPK8 Kits ELISA) pathway

SCN8A profil antigène

Antigen Summary

This gene encodes a member of the sodium channel alpha subunit gene family. The encoded protein forms the ion pore region of the voltage-gated sodium channel. This protein is essential for the rapid membrane depolarization that occurs during the formation of the action potential in excitable neurons. Mutations in this gene are associated with mental retardation, pancerebellar atrophy and ataxia. Alternate splicing results in multiple transcript variants.

Alternative names and synonyms associated with SCN8A

  • sodium channel, voltage gated, type VIII, alpha subunit (SCN8A) Elisa Kit
  • sodium channel, voltage gated, type VIII, alpha subunit (Scn8a) Elisa Kit
  • sodium channel, voltage-gated, type VIII, alpha (Scn8a) Elisa Kit
  • AI853486 Elisa Kit
  • C630029C19Rik Elisa Kit
  • CERIII Elisa Kit
  • CIAT Elisa Kit
  • dmu Elisa Kit
  • EIEE13 Elisa Kit
  • med Elisa Kit
  • mnd-2 Elisa Kit
  • mnd2 Elisa Kit
  • NaCh6 Elisa Kit
  • Nav1.6 Elisa Kit
  • nmf2 Elisa Kit
  • nmf58 Elisa Kit
  • nmf335 Elisa Kit
  • nur14 Elisa Kit
  • PN4 Elisa Kit
  • seal Elisa Kit

Protein level used designations for SCN8A

hNa6/Scn8a voltage-gated sodium channel , sodium channel protein type 8 subunit alpha , voltage-gated sodium channel subunit alpha Nav1.6 , Na+ channel , PN4 , naCh6 , peripheral nerve protein type 4 , sodium channel 6 , sodium channel protein type VIII subunit alpha , sodium channel voltage-gated type VIII alpha polypeptide , sodium channel, voltage-gated, type 8, alpha polypeptide , sodium channel, voltage-gated, type 8, alpha subunit , sodium channel, voltage-gated, type VIII, alpha polypeptide , ataxia 3

GENE ID SPECIES
6334 Homo sapiens
477604 Canis lupus familiaris
29710 Rattus norvegicus
537277 Bos taurus
20273 Mus musculus
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