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 qHsaCEP0040000; exonic
Platelet glycoprotein Ib (GPIb) is a heterodimeric transmembrane protein consisting of a disulfide-linked 140 kD alpha chain and 22 kD beta chain. It is part of the GPIb-V-IX system that constitutes the receptor for von Willebrand factor (VWF) and mediates platelet adhesion in the arterial circulation. GPIb alpha chain provides the VWF binding site and GPIb beta contributes to surface expression of the receptor and participates in transmembrane signaling through phosphorylation of its intracellular domain. Mutations in the GPIb beta subunit have been associated with Bernard-Soulier syndrome velocardiofacial syndrome and giant platelet disorder. The 206 amino acid precursor of GPIb beta is synthesized from a 1.0 kb mRNA expressed in plateletes and megakaryocytes. A 411 amino acid protein arising from a longer unspliced transcript in endothelial cells has been described; however the authenticity of this product has been questioned. Yet another less abundant GPIb beta mRNA species of 3.5 kb expressed in nonhematopoietic tissues such as endothelium brain and heart was shown to result from inefficient usage of a non-consensus polyA signal in the neighboring upstream gene (SEPT5 septin 5). In the absence of polyadenylation from its own imperfect site the SEPT5 gene produces read-through transcripts that use the consensus polyA signal of this gene. [provided by RefSeq Dec 2010]