Analysis of SPTLC1 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-1940-LGZ)

Introduction

Official Full Name: serine palmitoyltransferase long chain base subunit 1
Also known as: HSN1; LBC1; LCB1; SPT1; SPTI; ALS27; HSAN1
This gene encodes a member of the class II pyridoxal phosphate-dependent transaminase family. The encoded protein is long-chain base subunit 1 of serine palmitoyltransferase. Serine palmitoyltransferase converts L-serine and palmitoyl-CoA with pyridoxal 5'-phosphate to 3-oxysphingosine and is a key enzyme in sphingolipid biosynthesis. Mutations in this gene have been found in patients with hereditary sensory neuropathy type 1. Alternative splice variants encoding different isoforms have been identified. Pseudogenes of this gene have been identified on chromosomes 1, 6, 10 and 13.

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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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