Analysis of SGCE Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-1852-LGZ)

Introduction

Official Full Name: sarcoglycan epsilon
Also known as: ESG; DYT11; epsilon-SG
This gene encodes the epsilon member of the sarcoglycan family. Sarcoglycan is a transmembrane protein and a component of the dystrophin-glycoprotein complex that links the actin cytoskeleton to the extracellular matrix. Unlike other family members that are predominantly expressed in striated muscle, epsilon sarcoglycans are expressed more broadly. Mutations in this gene are associated with myoclonus-dystonia syndrome. This gene is imprinted, with preferential expression from the paternal allele. Alternative splice transcript variants of this gene have been found to encode distinct isoforms. A pseudogene related to this gene is located on chromosome 2.

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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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