Analysis of PMVK Gene (Mutation) in Porokeratosis of Mibelli by RT-qPCR (CAT#: STEM-MT-0143-LGZ)

Introduction

Also known as: PMK; PMKA; PMKASE; POROK1; HUMPMKI
This gene encodes a peroxidase, a member of the galactokinase, homoserine kinase, mevalonate kinase, and phosphovalonate kinase (GHMP) family of ATP-dependent enzymes. The encoded protein catalyzes the conversion of mevalonate 5-phosphate to mevalonate 5-diphosphate, the fifth step in the mevalonate pathway for isoprenoid biosynthesis. Mutations in this gene have been linked to certain types of osteoporosis, including diffuse superficial osteoporosis. Alternative splicing results in multiple transcript variants.

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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

Porokeratosis of Mibelli

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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