Analysis of DENND5A Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-2221-LGZ)

Name: Analysis of DENND5A Gene (Mutation) by RT-qPCR
SKU: STEM-MT-2221-LGZ
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Introduction

Official Full Name: DENN domain containing 5A
Also known as: DEE49; EIEE49; RAB6IP1
This gene encodes a denn domain-containing protein whose function is to activate the guanine nucleotide exchange factor (GEF) of Rab. This protein catalyzes the conversion of GDP to GTP, thereby converting the inactive GDP-bound Rab protein to the active GTP-bound form. The encoded protein is recruited to the Golgi membrane by RAB6 and is thus named RAB6-interacting protein 1. This protein also binds to RAB39. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are associated with early infantile epileptic encephalopathy-49.

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Principle Applications Procedure Materials

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.