Analysis of IBA57 Gene (Mutation) in Hereditary Spastic Paraplegia by RT-qPCR (CAT#: STEM-MT-0201-LGZ)

Name: Analysis of IBA57 Gene (Mutation) in Hereditary Spastic Paraplegia by RT-qPCR
SKU: STEM-MT-0201-LGZ
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Introduction

Also known as: MMDS3; SPG74; C1orf69
The protein encoded by this gene localizes to mitochondria and is part of the iron-sulfur cluster assembly pathway. The encoded protein plays a late role in the biosynthesis of mitochondrial 4Fe-4S protein. Defects in this gene are associated with autosomal recessive spastic paraplegia-74 and multiple mitochondrial dysfunction syndrome-3. Two transcript variants of this gene have been found to encode different isoforms. The smaller isoform is less likely to localize to the mitochondria because it lacks the amino-terminal transit peptide.

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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

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.