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 qHsaCEP0050350; exonic
The product encoded by this gene is involved in the maintenance of iron homeostasis and it is necessary for the regulation of iron storage in macrophages and for intestinal iron absorption. The preproprotein is post-translationally cleaved into mature peptides of 20 22 and 25 amino acids and these active peptides are rich in cysteines which form intramolecular bonds that stabilize their beta-sheet structures. These peptides exhibit antimicrobial activity. Mutations in this gene cause hemochromatosis type 2B also known as juvenile hemochromatosis a disease caused by severe iron overload that results in cardiomyopathy cirrhosis and endocrine failure. [provided by RefSeq Jul 2008]