mProX™ Human SCN4A Stable Cell Line

Product Information

Target Protein

SCN4A

Target Family

Voltage Gated Sodium Channel

Target Protein Species

Human

Host Cell Type

CHO-K1; HEK293

Target Classification

Ion Channel Cell Lines

Target Research Area

Cardiovascular Research; CNS Research

Related Diseases

Hyperkalemic Periodic Paralysis; Paramyotonia Congenita Of Von Eulenburg

Gene ID

6329

UniProt ID

P35499

Product Properties

Biosafety Level

Level 1

Activity

Yes

Quantity

10⁶ cells per vial

Applications

Action potential generation and propagation require sodium channels. The most prevalent isoform in skeletal muscle, NaV1.4, is encoded by the sodium channel alpha-subunit gene (SCN4A). Mutations that affect only one SCN4A allele are frequently linked with a gain-of-function leading to periods of hyperkalemic periodic paralysis and muscular stiffness (myotonia) that may increase with repetitive contraction (paramyotonia). Family members can differ phenotypically in terms of the age of onset and clinical severity of myotonia. Another group of heterozygous SCN4A mutations result in hypokalemic periodic paralysis by allowing abnormal ion leakage through the voltage sensor of the channel rather than the sodium-conducting pore. The customized SCN4A stable cell line can be used in antibody discovery and development, potential drug candidate screening and signaling pathway researches.

Protocols

Please visit our protocols page.

Customer Reviews

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FAQ

chat Elizabeth (Verified Customer)

Are there any known antagonists for SCN4A? Jun 23 2020

chat Sherry Smith (Creative Biolabs Scientific Support)

Yes, there are specific antagonists for SCN4A that can modulate its activity. Jun 23 2020

chat Linda (Verified Customer)

How does SCN4A influence cell adhesion? Apr 11 2023

chat Sherry Smith (Creative Biolabs Scientific Support)

SCN4A activation can influence cell adhesion molecules. Apr 11 2023

Published Data

Fig.1 Activation of L796V channels is shifted toward more negative potentials.

In HEK cells expressing WT (A) and L796V (B) channels, sodium currents were captured. Currents generated by depolarization to test potentials of 75 to +60 mV from a holding potential of 120 mV are shown as superimposed traces. (C) Peak sodium current as a function of test potential is displayed and demonstrates that for L796V compared to WT, the amplitude is less. (D) Peak current to relative conductance conversion reveals a 7.2 mV hyperpolarized shift for L796V channels.

Ref: Elia, Nathaniel, et al. "Myotonic Myopathy With Secondary Joint and Skeletal Anomalies From the c. 2386C> G, p. L796V Mutation in SCN4A." Frontiers in Neurology 11 (2020): 77.

Pubmed: 32265824

DOI: 10.3389/fneur.2020.00181

Research Highlights

Individuals with the mutation R675Q typically exhibit hyperkalemic or normokalemic periodic paralysis instead of hypokalemic periodic paralysis. Initial reports of the mutation V445M were made in Chinese patients suffering from nondystrophic myotonias.
Liu, Xiao-li, et al. "Mutations of SCN4A gene cause different diseases: 2 case reports and literature review." Channels 9.2 (2015): 82-87.
Pubmed: 25839108 DOI: 10.1080/19336950.2015.1012945

PMC and PP overlap can be caused by mutations in the SCN4A gene. Episodic weakness and stiffness could manifest clinically at a different time or temperature. Moreover, the other female in the childbearing stage with T704M can utilize the improvement of one member during the pregnancy period as a model.
Huang, Shan, et al. "Overlap of periodic paralysis and paramyotonia congenita caused by SCN4A gene mutations two family reports and literature review." Channels 13.1 (2019): 110-119.
Pubmed: 30931713 DOI: 10.1080/19336950.2019.1600967