PrimePCR™ ddPCR™ Copy Number Assay: SHH, Human

PrimePCR

ddPCR probe assay designed for copy number variation analysis. Probe assays consist of unlabeled PCR primers and a dual labeled fluorescent probe.

Info:   FAM; 63nt amplicon; crosses exon-intron junction; FAM version of SHH (dHsaCP2506631)

 
Fluorophore:   FAM
List Price:    RMB0.00
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Assay Information

Technology:   ddPCR
Assay Type:   Probe
Application:   Copy Number Variation
Unique Assay ID:   dHsaCP2500463
Chromosome Location:   hg197:155598944-155599066question
Amplicon Length:   63
Reference Assays:   , , ,
Restriction Enzymes:   HaeIII

Gene Information

This gene encodes a protein that is instrumental in patterning the early embryo. It has been implicated as the key inductive signal in patterning of the ventral neural tube the anterior-posterior limb axis and the ventral somites. Of three human proteins showing sequence and functional similarity to the sonic hedgehog protein of Drosophila this protein is the most similar. The protein is made as a precursor that is autocatalytically cleaved; the N-terminal portion is soluble and contains the signalling activity while the C-terminal portion is involved in precursor processing. More importantly the C-terminal product covalently attaches a cholesterol moiety to the N-terminal product restricting the N-terminal product to the cell surface and preventing it from freely diffusing throughout the developing embryo. Defects in this protein or in its signalling pathway are a cause of holoprosencephaly (HPE) a disorder in which the developing forebrain fails to correctly separate into right and left hemispheres. HPE is manifested by facial deformities. It is also thought that mutations in this gene or in its signalling pathway may be responsible for VACTERL syndrome which is characterized by vertebral defects anal atresia tracheoesophageal fistula with esophageal atresia radial and renal dysplasia cardiac anomalies and limb abnormalities. Additionally mutations in a long range enhancer located approximately 1 megabase upstream of this gene disrupt limb patterning and can result in preaxial polydactyly. [provided by RefSeq Jul 2008]

Gene Symbol:   SHH
Gene Name:   sonic hedgehog
Aliases:   HHG1, HLP3, HPE3, MCOPCB5, SMMCI, TPT, TPTPS
RefSeq:   NC_000007.13 NG_007504.1 NT_007741.14
Ensembl:   ENSG00000164690
Entrez:   6469
UniGene:   Hs.164537
Chromosome Mapping:   7q36

  Download Validation Data (.pdf)


Products used to generate validation data:

ddPCR Instrument QX200
ddPCR Supermix ddPCR Supermix for Probes (no dUTP)
Experimental Sample NA18916,AG09394

Copy Number
Copy number analysis of two samples, using the EIF2C1 reference assay. Technical replicates are shown.

Copy Number Text

ddPCR Amplitude Scatter Plot
Single-well data of target assay (FAM, Channel 1) duplexed to EIF2C1 reference assay (HEX, Channel 2).

ddPCR Amplitude Scatter Plot Text

Number Description Download