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 qHsaCEP0040411; exonic
The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold which is an ATP-binding cleft as a common feature. The ARPs are involved in diverse cellular processes including vesicular transport spindle orientation nuclear migration and chromatin remodeling. This gene (ACTL7B) and related gene ACTL7A are intronless and are located approximately 4 kb apart in a head-to-head orientation within the familial dysautonomia candidate region on 9q31. Based on mutational analysis of the ACTL7B gene in patients with this disorder it was concluded that it is unlikely to be involved in the pathogenesis of dysautonomia. Unlike ACTL7A the ACTL7B gene is expressed predominantly in the testis however its exact function is not known. [provided by RefSeq Jul 2008]