Analysis of SMPD1 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-2139-LGZ)

Introduction

Official Full Name: sphingomyelin phosphodiesterase 1
Also known as: ASM; NPD; ASMASE
The protein encoded by this gene is a lysosomal acid sphingomyelinase that converts sphingomyelin to ceramide. The encoded protein also has phospholipase C activity. This genetic defect is one of the causes of Niemann-Pick disease types A (NPA) and B (NPB). Multiple 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

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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