Analysis of BSCL2 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-2454-LGZ)

Introduction

Official Full Name: BSCL2 lipid droplet biogenesis associated, seipin
Also known as: HMN5; PELD; HMN5C; SPG17; GNG3LG
This gene encodes the multigenerational transmembrane protein seipin. This protein localizes to the endoplasmic reticulum and may be important for lipid droplet morphology. Mutations in this gene are associated with congenital generalized lipodystrophy type 2 or Berardinelli-Seip syndrome, a rare autosomal recessive disorder characterized by little to no fat tissue and severe insulin resistance. Alternative splice transcript variants of this gene have been found to encode distinct isoforms. Naturally occurring through-transcription occurs between this site and the adjacent site HNRNPUL2 (heterogeneous nuclear ribonucleoprotein u-like 2).

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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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