Analysis of TOR1AIP2 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-0714-LGZ)

Introduction

Official Full Name: torsin 1A interacting protein 2
Also known as: NET9; LULL1; IFRG15
One of two protein isoforms encoded by this gene is a type II integral membrane protein found in the endoplasmic reticulum (ER). The encoded protein is a cofactor for the ATPase TorsinA and regulates the amount of TorsinA in the endoplasmic reticulum compared to that found in the nuclear membrane. Defects in this protein are responsible for the early onset of primary dystonia, a neuromuscular disorder. Another isoform encoded by this gene is interferon alpha-responsive protein, the cellular role of which has not been determined.

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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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