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 qHsaCEP0055394; exonic
The protein encoded by this gene is an actin-binding protein that crosslinks actin filaments and links actin filaments to membrane glycoproteins. The encoded protein is involved in remodeling the cytoskeleton to effect changes in cell shape and migration. This protein interacts with integrins transmembrane receptor complexes and second messengers. Defects in this gene are a cause of several syndromes including periventricular nodular heterotopias (PVNH1 PVNH4) otopalatodigital syndromes (OPD1 OPD2) frontometaphyseal dysplasia (FMD) Melnick-Needles syndrome (MNS) and X-linked congenital idiopathic intestinal pseudoobstruction (CIIPX). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq Mar 2009]