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 and ELISA.
Other applications not tested.
Recommended Dilution:Western Blot: 1:500-1:2000ELISA: 1:5000-1:20,000Optimal dilutions to be determined by the researcher.
Storage and Stability:May be stored at 4°C for short-term only.
Aliquot to avoid repeated freezing and thawing.
Store at -20°C.
Aliquots are stable for 12 months after receipt.
For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.
仕様
Size：30ul
Host：rabbit
Source Antibody：human
Grade：Affinity Purified
Purity：Purified by immunoaffinity chromatography.
Form：Supplied as a liquid in PBS, pH 7.4, 0.02% sodium azide, 50% glycerol.
Specificity：Recognizes endogenous levels of human RGMC. Species Crossreactivity: mouse and rat
Isotype：IgG
Calc Applications Abbrev：E WB
Calc Crossreactivity：Hu Mo Rt
Immunogen：Synthetic peptide corresponding to aa270-350 from human RGMC.
