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 qHsaCIP0029530; Intron-spanning
This gene encodes a member of the methyl-CpG-binding domain (MBD) family. The MBD consists of about 70 residues and is the minimal region required for a methyl-CpG-binding protein binding specifically to methylated DNA. In addition to the MBD domain this protein contains a PWWP domain (Pro-Trp-Trp-Pro motif) which consists of 100-150 amino acids and is found in numerous proteins that are involved in cell division growth and differentiation. Mutations in this gene cause mental retardation autosomal dominant type 1. Haploinsufficiency of this gene is associated with a syndrome involving microcephaly intellectual disabilities severe speech impairment and seizures. Alternatively spliced transcript variants have been found but their full-length nature is not determined. [provided by RefSeq Mar 2010]