Analysis of TMEM43 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-1831-LGZ)

Introduction

Official Full Name: transmembrane protein 43
Also known as: LUMA; ARVC5; ARVD5; AUNA3; EDMD7; EDMD7; AUNA2
This gene belongs to the TMEM43 family. Defects in this gene are responsible for familial arrhythmic right ventricular dysplasia type 5 (ARVD5), also known as arrhythmic right ventricular cardiomyopathy type 5 (ARVC5). Arrhythmic right ventricular dysplasia is an inherited disorder, often involving both ventricles, characterized by ventricular tachycardia, heart failure, sudden cardiac death, and fibrofatty replacement of cardiomyocytes. This gene contains a response element for PPARγ, an adipogenic transcription factor, which may explain fibrofatty replacement of the myocardium, a characteristic pathological finding in ARVC.

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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

Gene mutation analysis.

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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