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Analysis of TBCE Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-0189-LGZ)

Introduction

Also known as: HRD; KCS; KCS1; pac2; PEAMO<br />Cofactor E is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. Two transcript variants encoding the same protein have been found for this gene.




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

Inborn genetic diseases, Autosomal recessive Kenny-Caffey syndrome

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