Analysis of CACNB4 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-1477-LGZ)

Introduction

Official Full Name: calcium voltage-gated channel auxiliary subunit beta 4
Also known as: EA5; EJM; CAB4; EIG9; EJM4; EJM6; CACNLB4
This gene encodes a member of the β-subunit family of voltage-dependent calcium channel complex proteins. Calcium ion channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of α-1, α-2/δ, β, and γ subunits in a 1:1:1:1 ratio. Different versions of each of these subunits exist that are either expressed by similar genes or are the result of alternative splicing. The protein encoded by this locus plays an important role in calcium channel function by modulating G protein repression, increasing peak calcium currents, controlling α-1 subunit membrane targeting, and altering the voltage dependence of activation and inactivation. Certain mutations in this gene have been associated with idiopathic generalized epilepsy (IGE), juvenile myoclonic epilepsy (JME), and paroxysmal ataxia type 5.

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Principle Applications Procedure Materials Notes Related Products

Principle

Quantitative reverse transcription PCR (RT-qPCR) is an experimental method applied to PCR experiments using RNA as the starting material. In this method, total or messenger RNA (mRNA) is first transcribed into complementary DNA (cDNA) by reverse transcriptase. Subsequently, qPCR reaction was performed using cDNA as template.

Applications

Hereditary episodic ataxia, Juvenile myoclonic epilepsy

Procedure

1. Sample processing and preparation of PCR reaction system.
2. Add the amplification template, cover the PCR reaction cover, mix well, centrifuge at low speed instantaneously, and transfer to the PCR instrument.
3. Set the program for PCR amplification.
4. Data analysis.

Materials

Sample: depends on the customer's analysis requirements

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