Sodium Channel, Voltage-Gated, Type IV, alpha Subunit Proteine (SCN4A)

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. Zusätzlich bieten wir Ihnen SCN4A Antikörper (18) und viele weitere Produktgruppen zu diesem Protein an.

alle Proteine anzeigen Gen GeneID UniProt
SCN4A 110880 Q9ER60
SCN4A 6329 P35499
Ratte SCN4A SCN4A 25722 P15390
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Katalog Nr. Origin Quelle Konjugat Bilder Menge Anbieter Lieferzeit Preis Details
Escherichia coli (E. coli) Human His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Anmelden zum Anzeigen 30 bis 35 Tage
$5,465.26
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Insektenzellen Human His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Anmelden zum Anzeigen 50 Days
$6,869.04
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Escherichia coli (E. coli) Maus His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Anmelden zum Anzeigen 30 bis 35 Tage
$5,465.26
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Insektenzellen Maus His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Anmelden zum Anzeigen 50 Days
$6,869.04
Details

SCN4A Proteine nach Spezies und Herkunft

Origin Exprimiert in Konjugat
Mouse (Murine) ,

Human ,

Weitere Proteine zu Sodium Channel, Voltage-Gated, Type IV, alpha Subunit (SCN4A) Interaktionspartnern

Mouse (Murine) Sodium Channel, Voltage-Gated, Type IV, alpha Subunit (SCN4A) Interaktionspartner

  1. NaV1.4 null mice have latent myasthenia and a right shift of the force-stimulus relation, without evidence of periodic paralysis. Sodium current density was half that of wild-type muscle and no compensation by retained expression of the foetal NaV1.5 (zeige SCN5A Proteine) isoform was detected. Mice null for NaV1.4 did not survive beyond the second postnatal day.

  2. In-depth characterization of draggen mice uncovered novel systemic metabolic abnormalities in Scn4a mouse models and provided novel insights into disease mechanisms

  3. HyperKPP phenotype does not depend solely on the NaV1.4 content.

  4. A distinct autosomal recessive myotonic mouse in the C57BL/6 background (line B6MT)is reported in which the Scn4a gene shows polymorphism with no functional consequences.

  5. The skeletal muscle isoform of Na(v)1.4, which represents over 90% of voltage-gated sodium channels in muscle, plays an important role in development of abnormally high Na(+) concentrations found in muscle from mdx (zeige DMD Proteine) mice.

Human Sodium Channel, Voltage-Gated, Type IV, alpha Subunit (SCN4A) Interaktionspartner

  1. We report on 3 brothers presenting a peculiar clinical and histopathologic phenotype characterized by facial weakness with ptosis and a mild dystrophic pattern associated with recessive SCN4A mutations.

  2. Paramyotonia congenita-causing mutation N1366S leads to a gain-of-function change of NaV1.4 gating in response to cold.

  3. Data suggest that mutation of the sodium channel, voltage-gated, type IV, alpha protein (SCN4A) gene probably underlies the hypokalemic periodic paralysis in the family.

  4. Combining our results with the literature on Chinese populations indicates that 21 mutations in CLCN1 (zeige CLCN1 Proteine) have been associated with myotonia congenital, while 7 mutations in SCN4A have been associated with paramyotonia congenita, 2 mutations in SCN4A have been associated with sodium channel myotonias.

  5. A rare variant p.Pro1629Leu in SCN4A identified in a patient with a skeletal muscle deficit and intermittent dysphagia.

  6. Cohort of 30 patients carrying the c.3466G>A p.A1156T mutation in the SCN4A gene showed a consistent phenotype of predominant myalgia, muscle stiffness, and exercise cramps without signs of clinical myotonia, paramyotonia, or periodic paralyses; modest gain in the function of p.A1156T channel in whole-cell patch clamp studies may explain the absence of clinical myotonia

  7. These data suggest a possible involvement of SCN4A variants in the pathophysiological mechanism underlying the development of a spontaneous or drug-induced type 1 electrocardiographic pattern and the occurrence of malignant arrhythmias in some patients with Brugada syndrome.

  8. association of the genetic variability of SCN4A with the development of essential tremor

  9. Computer simulations of the effects of the I693T mutation were introduced in the muscle fiber model by both hyperpolarizing shifts in the Nav1.4 channel activation and a faster recovery from slow channel inactivation

  10. CACNA1S (zeige CACNA1S Proteine) and SCN4A mutations are relatively rare in patients with hypokalemic periodic paralysis

SCN4A Protein Überblick

Protein Überblick

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. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. It is expressed in skeletal muscle, and mutations in this gene have been linked to several myotonia and periodic paralysis disorders.

Genbezeichner und Symbole assoziert mit SCN4A

  • sodium channel, voltage-gated, type IV, alpha (Scn4a)
  • sodium voltage-gated channel alpha subunit 4 (SCN4A)
  • sodium voltage-gated channel alpha subunit 4 (Scn4a)
  • sodium channel, voltage-gated, type IV, alpha, b (scn4ab)
  • HOKPP2 Protein
  • HYKPP Protein
  • HYPP Protein
  • mH2 Protein
  • microI Protein
  • Na(V)1.4 Protein
  • NAC1A Protein
  • Nav1.4 Protein
  • Nav1.4b Protein
  • NCHVS Protein
  • SkM1 Protein

Bezeichner auf Proteinebene für SCN4A

sodium channel alpha-subunit , sodium channel protein skeletal muscle subunit alpha , sodium channel protein type 4 subunit alpha , sodium channel protein type IV subunit alpha , sodium channel, voltage-gated, type IV, alpha polypeptide , voltage-gated sodium channel subunit alpha Nav1.4 , skeletal muscle voltage-dependent sodium channel type IV alpha subunit , Sodium channel voltage-gated type IV alpha polypeptide , mu-1 , skM1 , sodium channel voltage-gated type 4 alpha polypeptide , sodium channel, voltage-gated, type 4, alpha polypeptide , sodium channel, voltage-gated, type 4, alpha subunit , sodium channel, voltage-gated, type IV, alpha subunit , Sodium channel protein skeletal muscle subunit alpha , Sodium channel protein type IV subunit alpha , Voltage-gated sodium channel subunit alpha Nav1.4 , skeletal muscle sodium channel alpha-subunit , sodium channel protein type 4 subunit alpha-like , Nav1.4b , Voltage-gated sodium channel subunit alpha Nav1.4b , sodium channel protein type 4 subunit alpha B , voltage-gated sodium channel subunit alpha Nav1.4b , zscn5

GENE ID SPEZIES
110880 Mus musculus
6329 Homo sapiens
25722 Rattus norvegicus
610754 Canis lupus familiaris
718194 Macaca mulatta
100049793 Equus caballus
100414137 Callithrix jacchus
100450057 Pongo abelii
100470881 Ailuropoda melanoleuca
100511715 Sus scrofa
100612017 Pan troglodytes
564977 Danio rerio
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