The product of HFE2 is involved in iron metabolism.
It may be a component of the signaling pathway which activates hepcidin or it may act as a modulator of hepcidin expression.
It could also represent the cellular receptor for hepcidin.
Two uORFs in the 5' UTR negatively regulate the expression and activity of the encoded protein.
Alternatively spliced transcript variants encoding different isoforms have been identified for this gene.
Defects in HFE2 are the cause of hemochromatosis type 2A, also called juvenile hemochromatosis (JH).
JH is an early-onset autosomal recessive disorder due to severe iron overload resulting in hypogonadotrophic hypogonadism, hepatic fibrosis or cirrhosis and cardiomyopathy, occurring typically before age of 30.
Applications:Suitable for use in Western Blot, Immunohistochemistry and Immunocytochemistry.
Other applications not tested.
Recommended Dilution:Western Blot: 0.2-2ug/mlImmunohistochemistry: 5-20ug/mlImmunocytochemistry: 5-20ug/mlOptimal dilutions to be determined by the researcher.
Storage and Stability:Store product at 4°C if to be used immediately within two weeks.
For long-term storage, aliquot to avoid repeated freezing and thawing and store at -20°C.
Aliquots are stable at -20°C for 12 months after receipt.
Dilute required amount only prior to immediate use.
Further dilutions can be made in assay buffer.
For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.
仕様
Size:200ul
Host:rabbit
Source Antibody:human
Grade:Affinity Purified
Purity:Purified by Protein A and peptide affinity chromatography.
Form:Supplied as a liquid in PBS, pH 7.4, 0.02% sodium azide, 50% glycerol. Labeled with Biotin.