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Analysis of GNE Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-1941-LGZ)

Introduction

Official Full Name: glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
Also known as: NM; DMRV; IBM2; Uae1; GLCNE
The protein encoded by this gene is a bifunctional enzyme that initiates and regulates the biosynthesis of the sialic acid precursor N-acetylneuraminic acid (NeuAc). It is the rate-limiting enzyme in the sialic acid biosynthetic pathway. Sialic acid modification of cell surface molecules is critical to the function of many biological processes such as cell adhesion and signal transduction. Differential sialylation of cell surface molecules has also been implicated in the tumorigenic and metastatic behavior of malignant cells. Mutations in this gene have been associated with sialuria, autosomal recessive inclusion body myopathy, and Nonaka myopathy. Alternative splicing of this gene results in transcript variants encoding different isoforms.




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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