PrimePCR™ ddPCR™ Expression Probe Assay: MVK, Human


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

Info:   FAM; Same primer pair and probe as used in qPCR assay qHsaCEP0050602; exonic

Fluorophore:   FAM
List Price:    $201.00
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Assay Information

Technology:   ddPCR
Assay Type:   Probe
Application:   Gene Expression
Unique Assay ID:   dHsaCPE5034552
Chromosome Location:   12:110013815-110013934question
Amplicon Length:   90

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
UniGene:   Hs.130607
Chromosome Mapping:   12q24

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