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

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 (14) und SCN4A Proteine (10) und viele weitere Produktgruppen zu diesem Protein an.

list all ELISA KIts Gen GeneID UniProt
Anti-Maus SCN4A SCN4A 110880 Q9ER60
Anti-Human SCN4A SCN4A 6329 P35499
Anti-Ratte SCN4A SCN4A 25722 P15390
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Weitere ELISA Kits für SCN4A Interaktionspartner

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 ELISA Kits) 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 ELISA Kits) mice.

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

  1. Combining our results with the literature on Chinese populations indicates that 21 mutations in CLCN1 (zeige CLCN1 ELISA Kits) 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.

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

  3. 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

  4. 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.

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

  6. 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

  7. CACNA1S (zeige CACNA1S ELISA Kits) and SCN4A mutations are relatively rare in patients with hypokalemic periodic paralysis

  8. Recessive loss-of-function SCN4A mutations were identified in congenital myopathy patients.

  9. The c.4427 T>C (p.Met1476Thr) mutation of the SCN4A gene contribute to the paramyotonia congenita.

  10. Mutation analysis in the patient and in child's mother revealed a heterozygous p.N1180I mutation in exon 19 of SCN4A gene. In newborns with stiffness, peripheral contractures and myotonia, the sequence analysis of SCN4A gene should be performed.

SCN4A Antigen-Profil

Beschreibung des Gens

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

Bezeichner auf Proteinebene für SCN4A

sodium channel, voltage-gated, type IV, alpha subunit , sodium channel protein type 4 subunit alpha-like , 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 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

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