PrimePCR™ ddPCR™ Expression Probe Assay: CBS, Human

PrimePCR

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 qHsaCIP0028338; Intron-spanning

 
Fluorophore:   FAM
List Price:    $207.00
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Assay Information

Technology:   ddPCR
Assay Type:   Probe
Application:   Gene Expression
Unique Assay ID:   dHsaCPE5050532
Chromosome Location:   21:44485726-44486410question
Amplicon Length:   108

Gene Information

The protein encoded by this gene acts as a homotetramer to catalyze the conversion of homocysteine to cystathionine the first step in the transsulfuration pathway. The encoded protein is allosterically activated by adenosyl-methionine and uses pyridoxal phosphate as a cofactor. Defects in this gene can cause cystathionine beta-synthase deficiency (CBSD) which can lead to homocystinuria. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq May 2010]

Gene Symbol:   CBS
Gene Name:   cystathionine-beta-synthase
Aliases:   HIP4
RefSeq:   NC_000021.8 NG_008938.1 NT_011515.12
Ensembl:   ENSG00000160200
Entrez:   875
UniGene:   Hs.533013
Chromosome Mapping:   21q22.3

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