mProX™ Human SCN2A Stable Cell Line

Product Information

Target Protein

SCN2A

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

Seizures; Epileptic Encephalopathy

Gene ID

6326

UniProt ID

Q99250

Product Properties

Biosafety Level

Level 1

Activity

Yes

Quantity

10⁶ cells per vial

Applications

The voltage-gated sodium channel Nav1.2, one of the principal sodium channels involved in the beginning and propagation of action potentials, is encoded by the SCN2A gene. Early in development, Nav1.2 is expressed in axon initial segments and Ranvier nodes of myelinated nerve fibers, and in the adult brain, it is found in axon initial segments and unmyelinated axons. SCN2A mutations have thus far been discovered to mostly disrupt the early stages of development, while some mutations have also been linked to later-onset neurological illnesses or a combination of both. SCN2A mutations have been discovered in individuals without epilepsy who also had intellectual disability or autistic symptoms, indicating that the gene may play a role in the etiology of autism spectrum disorders. The customized SCN2A 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 Thomas (Verified Customer)

Where is the SCN2A found ? Apr 17 2020

chat Sherry Smith (Creative Biolabs Scientific Support)

Nav1.2 is expressed in axon initial segments and Ranvier nodes of myelinated nerve fibers, and in the adult brain, it is found in axon initial segments and unmyelinated axons. Apr 17 2020

chat Paul (Verified Customer)

How do SCN2A stable cell lines compare to other commonly used cell lines in research? Nov 09 2021

chat Sherry Smith (Creative Biolabs Scientific Support)

SCN2A stabilized cell lines offer unique insights specific to their function. However, like other cell lines, their effectiveness depends on the accuracy of the stabilization process. Nov 09 2021

Published Data

Fig.1 NaV1.2 channels display reduced peak Na+ current density in transfected cells.

Example immunoblot of biotinylated surface fraction or whole cell lysates from HEK293 cells expressing the three channels. Transferrin receptor (TfR), a membrane marker, and actin, a cytoplasmic marker, respectively, show that the biotinylated membrane fraction was successfully separated.

Ref: Wang, Hong-Gang, et al. "Scn2a severe hypomorphic mutation decreases excitatory synaptic input and causes autism-associated behaviors." JCI insight 6.15 (2021).

Pubmed: 34156984

DOI: 10.1172/jci.insight.150698

Research Highlights

Together with information from the literature, functional characterization of four specific missense mutations in tsA201 cells using whole cell patch-clamping suggests that mutations linked to early infantile epilepsy cause increased sodium channel activity with gain-of-function, which is characterized by a slowing of fast inactivation, an acceleration of its recovery, or an increase in persistent sodium current.
Wolff, Markus, et al. "Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders." Brain 140.5 (2017): 1316-1336.
Pubmed: 28379373 DOI: 10.1093/brain/awx054

Three phenotypes are suggested by a review of documented cases of SCN2A encephalopathy: a group with a juvenile onset, a group with a neonatal-infantile onset and severe and intermediate outcomes.
Howell, Katherine B., et al. "SCN2A encephalopathy: a major cause of epilepsy of infancy with migrating focal seizures." Neurology 85.11 (2015): 958-966.
Pubmed: 26291284 DOI: 10.1212/WNL.0000000000001926