Analysis of GLUD1 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-2070-LGZ)

Introduction

Official Full Name: glutamate dehydrogenase 1
Also known as: GDH; GDH1; GLUD; hGDH1
This gene encodes glutamate dehydrogenase, a mitochondrial matrix enzyme that catalyzes the oxidative deamination of glutamate to alpha-ketoglutarate and ammonia. This enzyme plays an important role in regulating amino acid-induced insulin secretion. It is activated by ADP and inhibited by GTP and ATP. Activating mutations in this gene are a common cause of congenital hyperinsulinemia. Alternative splicing of this gene results in multiple transcript variants. The related glutamate dehydrogenase 2 gene on the human X chromosome originates from this gene by retrotransposition and encodes a soluble form of glutamate dehydrogenase. Associated pseudogenes were identified on chromosomes 10, 18 and X.

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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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