Analysis of INPP5E Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-1992-LGZ)

Introduction

Official Full Name: inositol polyphosphate-5-phosphatase E<br />Also known as: CPD4; CORS1; JBTS1; MORMS; PPI5PIV; pharbin<br />The protein encoded by this gene is an inositol 1,4,5-triphosphate (InsP3) 5-phosphatase. Insp35-phosphatase hydrolyzes Ins(1,4,5)P3, Ins(1,4,5)P3 mobilizes intracellular calcium, and acts as a second messenger to mediate cellular responses to various stimuli. Studies in mouse counterparts suggest that this protein may hydrolyze phosphatidylinositol 3,4,5-triphosphate and phosphatidylinositol 3,5-bisphosphate at the cytoplasmic Golgi membrane, thereby regulating Golgi vesicular trafficking. Mutations in this gene cause Joubert syndrome; a clinically and genetically heterogeneous group of disorders characterized by midbrain-hindcephaly malformations and various associated ciliopathies, including retinal dystrophies, nephropathy, hepatic fibrosis, and polydactyly. Alternative splicing results in multiple transcript variants encoding different isoforms.

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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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