This is the amplicon context sequence in accordance with the minimum information for the publication of real-time quantitative PCR experiements (MIQE) guidelines. For more details, please refer to the following publication, "Primer Sequence Disclosure: A Clarification of the MIQE Guidelines."
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 qHsaCEP0039036; exonic
This gene encodes a paired-like homeodomain transcription factor expressed in the mesenchyme of developing bones limbs hair teeth and mammary tissue. Mutations in this gene cause parietal foramina 2 (PFM2); an autosomal dominant disease characterized by deficient ossification of the parietal bones. Mutations in this gene also cause a form of frontonasal dysplasia with alopecia and hypogonadism; suggesting a role for this gene in craniofacial development mesenchymal-epithelial communication and hair follicle development. Deletion of a segment of chromosome 11 containing this gene del(11)(p11p12) causes Potocki-Shaffer syndrome (PSS); a syndrome characterized by craniofacial anomalies mental retardation multiple exostoses and genital abnormalities in males. In mouse this gene has been shown to use dual translation initiation sites located 16 codons apart. [provided by RefSeq Oct 2009]