PrimePCR™ Probe Assay: CBS, 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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PrimePCR™ PreAmp for Probe Assay: CBS, Human
Reaction:     400 reactions
Gene-specific PCR primers for the unbiased preamplification of small quantities of cDNA for subsequent use in downstream gene expression analysis.

PrimePCR™ Template for Probe Assay: CBS, Human
Reaction:     200 x 20 µl reactions
Gene-specific synthetic DNA template designed to give a positive real-time PCR result when used with the corresponding probe assay.


Wet Lab Validated

Assay Information

Technology:   qPCR
Assay Type:   Probe
Application:   Gene Expression
Unique Assay ID:   qHsaCIP0028338
Assay Design:   Intron-spanning
Chromosome Location:   21:44485726-44486410question
Amplicon Length:   108
Splice Variants Targeted:   ENST00000398158 ENST00000398165 ENST00000359624 ENST00000352178 ENST00000441030 ENST00000398168 ENST00000539520 ENST00000544202

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
Chromosome Mapping:   21q22.3

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