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™ Evagreen assay for gene expression analysis. EvaGreen assays consist of unlabeled PCR primer.
Info: EG; Same primer pair as used in qPCR assay qHsaCED0037849; exonic
The protein encoded by this gene is known to associate with hematopoietic cell-specific Lyn substrate 1 a substrate of Src family tyrosine kinases. It also interacts with the product of the polycystic kidney disease 2 gene mutations in which are associated with autosomal-dominant polycystic kidney disease and with the F-actin-binding protein cortactin. It was earlier thought that this gene product is mainly localized in the mitochondria however recent studies indicate it to be localized in the cell body. Mutations in this gene result in autosomal recessive severe congenital neutropenia also known as Kostmann disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq Jul 2008]