Analysis of OBSCN Gene (Mutation) in Hereditary Spastic Paraplegia by RT-qPCR (CAT#: STEM-MT-0200-LGZ)

Introduction

Also known as: UNC89; RHABDO1; ARHGEF30
The gene is more than 150 kb in length, contains more than 80 exons, and encodes a protein of about 720 kDa. The encoded protein contains 68 Ig domains, 2 fibronectin domains, 1 calcium/calmodulin binding domain, 1 RhoGEF domain and associated PH domain, and 2 serine-threonine kinases domain. This protein belongs to the huge family of sacral muscle signaling proteins including titin and nebulin, and may play a role in the organization during myofibril assembly and may mediate the interaction between the sarcoplasmic reticulum and myofibrils. Alternative splicing transcript variants encoding different isoforms have been identified.

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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

Hereditary spastic paraplegia, Multiple mitochondrial dysfunctions 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

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