mProX™ Human KCNC2 Stable Cell Line

Product Information

Target Protein

KCNC2

Target Family

Kv3

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

Extratemporal Epilepsy; Spinocerebellar Ataxia

Gene ID

3747

UniProt ID

Q96PR1

Product Properties

Biosafety Level

Level 1

Activity

Yes

Quantity

10⁶ cells per vial

Applications

Fast-spiking GABAergic interneurons in the cortical and hippocampus regions of the brain are where Kv3.2 proteins are primarily expressed. Excitation/inhibition (E/I) balance in the central nervous system must be maintained by sustained high-frequency firing of GABAergic interneurons. A frequent neuropathological hallmark of many developmental diseases, including Rett syndrome, and epilepsy, is the lack of E/I balance. In the neurons of seizure-sensitive gerbils, for instance, Kv3.2 immunoreactivity is substantially lower than it is in the neurons of seizure-resistant gerbils. In particular, KCNC2-knockout mice exhibit aberrant EEG patterns, poor cortical inhibition, and increased susceptibility to epileptic seizures. However, there isn't enough concrete data to prove that Kv3.2 channels play a part in human encephalopathy. The customized KCNC2 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

chat Shirley

I recomended KCNC2 Knock out cell line to my lab members. The delivery is much faster than I expected. Jun 22 2020

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chat Joseph

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FAQ

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Published Data

Fig.1 Electrophysiological analysis of wild type and mutant KCNC2 channels.

Current outflow traces in response to voltage steps between -80 and +80 mV from HEK-293 cells transfected with plasmids encoding wild type (WT) or R405G mutant KCNC2 channels. WT and R405G channel average current density-voltage curves.

Ref: Wang, Sumei, et al. "Emerging evidence of genotype-phenotype associations of developmental and epileptic encephalopathy due to KCNC2 mutation: Identification of novel R405G." Frontiers in Molecular Neuroscience 15 (2022): 950255.

Pubmed: 36090251

DOI: 10.3389/fnmol.2022.950255

Research Highlights

Kv3.2, a voltage-gated potassium channel subfamily member of the Shaw-related (Kv3) subfamily, is encoded by KCNC2 and is crucial for the brain's optimal energy efficiency and prolonged high-frequency firing of action potentials. Examining the clinical phenotype, genetic origin, and biophysical role of disease-associated Kv3.2 variations was the aim of this investigation.
Schwarz, Niklas, et al. "Spectrum of phenotypic, genetic, and functional characteristics in patients with epilepsy with KCNC2 pathogenic variants." Neurology 98.20 (2022): e2046-e2059.
Pubmed: 35314505 DOI: 10.1212/WNL.0000000000200660

Variants in ion channel genes, including those pertaining to potassium channels like KCNA1, KCNA2, KCNB1, KCNQ2, KCTD7, and KCNT1, have been linked to an increasing number of developmental and epileptic encephalopathies.
Vetri, Luigi, et al. "A de novo heterozygous mutation in KCNC2 gene implicated in severe developmental and epileptic encephalopathy." European Journal of Medical Genetics 63.4 (2020): 103848.
Pubmed: 31972370 DOI: 10.1016/j.ejmg.2020.103848