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.
Alternatively spliced transcript variants encoding different isoforms have been identified for this gene.
Defects in this gene 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 and Indirect Flow Cytometry.
Other applications have not been tested.
Recommended Dilutions:Optimal 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.
Caution: FITC conjugates are sensitive to light.
For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.
Note: Applications are based on unconjugated antibody.
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 7.2. No preservative added. Labeled with Fluorescein isothiocyanate (FITC).
Specificity:Recognizes human HFE2.
Isotype:IgG
Calc Applications Abbrev:FC WB
Calc Crossreactivity:Hu
Immunogen:KLH-conjugated synthetic peptide mapping to a fragment of residues within amino acids 308-338 from the C-terminal region of human HFE2. Species sequence homology: mouse and rat