PrimePCR™ Probe Assay: MVK, Human

RT

Real-time PCR probe assay designed for gene expression analysis. Probe assays consist of unlabeled PCR primers and a dual labeled fluorescent probe.

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Assay Information

Technology:   qPCR
Assay Type:   Probe
Application:   Gene Expression
Unique Assay ID:   qHsaCEP0050602
Assay Design:   exonic
Chromosome Location:   12:110013815-110013934question
Amplicon Length:   90
Splice Variants Targeted:   ENST00000539335 ENST00000546277 ENST00000228510 ENST00000392727 ENST00000539575 ENST00000541384

Gene Information

This gene encodes the peroxisomal enzyme mevalonate kinase. Mevalonate is a key intermediate and mevalonate kinase a key early enzyme in isoprenoid and sterol synthesis. Mevalonate kinase deficiency caused by mutation of this gene results in mevalonic aciduria a disease characterized psychomotor retardation failure to thrive hepatosplenomegaly anemia and recurrent febrile crises. Defects in this gene also cause hyperimmunoglobulinaemia D and periodic fever syndrome a disorder characterized by recurrent episodes of fever associated with lymphadenopathy arthralgia gastrointestinal dismay and skin rash. Two transcript variants that encode the same protein have been found for this gene. [provided by RefSeq Jul 2008]

Gene Symbol:   MVK
Gene Name:   mevalonate kinase
Aliases:   FLJ96772, LRBP, MK, MVLK
RefSeq:   NC_000012.11 NG_007096.1 NG_007702.1 NT_009775.17
Ensembl:   ENSG00000110921
Entrez:   4598
Chromosome Mapping:   12q24

The below validation information is for the Primer Pair only   Download Validation Data (.pdf)


Products used to generate validation data:

Real-Time PCR Instrument CFX384 Real-Time PCR Detection System
Reverse Transcription Reagent iScript™ Advanced cDNA Synthesis Kit for RT-qPCR
Real-Time PCR Supermix SsoAdvanced™ Universal SYBR® Green Supermix
Experimental Sample qPCR Human Reference Total RNA

Summary Data:

R2 0.999600
y-intercept 35.590000
Efficiency 100

Amplification Plot
Amplification of cDNA generated from universal RNA.

Amplification of cDNA generated from universal RNA.

Melt Peak
Melt curve analysis of above amplification.

Melt curve analysis of above amplification.

Standard Curve
Standard curve generated using 20 million copies of template diluted 10 fold to 20 copies.

Standard curve generated using 20 million copies of template diluted 10 fold to 20 copies.

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