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: HEX; Same primer pair and probe as used in qPCR assay qHsaCIP0030373; Intron-spanning
This gene encodes an E3 ubiquitin-protein ligase part of the ubiquitin protein degradation system. This imprinted gene is maternally expressed in brain and biallelically expressed in other tissues. Maternally inherited deletion of this gene causes Angelman Syndrome characterized by severe motor and intellectual retardation ataxia hypotonia epilepsy absence of speech and characteristic facies. The protein also interacts with the E6 protein of human papillomavirus types 16 and 18 resulting in ubiquitination and proteolysis of tumor protein p53. Alternative splicing of this gene results in three transcript variants encoding three isoforms with different N-termini. Additional transcript variants have been described but their full length nature has not been determined. [provided by RefSeq Jul 2008]