mProX™ Human CACNA1H Stable Cell Line

Product Information

Target Protein

CACNA1H

Target Family

Voltage Gated Calcium Channel

Target Protein Species

Human

Host Cell Type

CHO-K1; HEK293

Target Classification

Ion Channel Cell Lines

Target Research Area

CNS Research

Related Diseases

Hyperaldosteronism; Epilepsy

Gene ID

8912

UniProt ID

O95180

Product Properties

Biosafety Level

Level 1

Activity

Yes

Quantity

10⁶ cells per vial

Applications

A gene associated with epilepsy susceptibility has been identified as CACNA1H. Patients with CAE, one of the most prevalent forms of IGEs, were the first to have mutations in this gene found. As a result of CACNA1H's alternative splicing at 12-14 locations, several isoforms with various biophysical, modulatory, and pharmacological characteristics can be produced. There is strong evidence to suggest that the context of the splice variant affects how mutations, such as the CaV3.2 mutation (gcm) in the genetic absence epilepsy rats from Strasbourg (GAERS), alter channel characteristics. The gcm mutation, which results in an R1584P substitution in exon 24 of CACNA1H, is a G to C single nucleotide change. This exon encodes a section of the linker of domain III-IV in the CaV3.2 channel. The customized CACNA1H 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 Deborah

I customized a CACNA1H overexpression cell line and it was verified that the product meets my requirement. Jul 10 2023

chat Verified Customer

chat Laura

This cell line is very suitable for studying the CACNA1H signaling pathway. Jan 27 2023

chat Verified Customer

FAQ

Any questions about our products? Please visit our frequently asked questions page.

Published Data

Fig.1 Mutations identified in individuals with ASD alter the activation properties of Cav3.2 channels.

The voltage sensor mutants R212C DI/S4, R902W DII/S4, and W962C pore mutant all created channels with much lower current conductivity than WT channels. There were no changes in current density between WT and the CaV1.2 G406R mutation linked to TS, according to earlier characterization. Peak currents, current-density voltage relationships, and conductances were examined in order to evaluate functional expression.

Ref: Splawski, Igor, et al. "CACNA1H mutations in autism spectrum disorders." Journal of Biological chemistry 281.31 (2006): 22085-22091.

Pubmed: 16754686

DOI: 10.1074/jbc.M603316200

Research Highlights

Mutations in CACNA1H have been linked to a higher risk of developing focal or multifocal epilepsy, as well as generalized epilepsy of variable severity. In addition to epilepsy, developmental delay, and autism, phenotypic abnormalities involving other organ systems (gastrointestinal, immunological) may also manifest.
Chourasia, Nitish, et al. "Expanding the phenotypic spectrum of CACNA1H mutations." Pediatric Neurology 93 (2019): 50-55.
Pubmed: 30686625 DOI: 10.1016/j.pediatrneurol.2018.11.017

Due to imperfect penetrance, variable expressivity, and/or de novo mutations causing the absence of standard segregation patterns in families, many Mendelian features are probably unidentified. Sequencing at the genome level can get around these problems.
Scholl, Ute I., et al. "Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism." elife 4 (2015): e06315.
Pubmed: 25907736 DOI: 10.7554/eLife.06315