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Reactivity | Human Mouse Rat |
Tested applications | WB IHC |
Recommended Dilution | WB 1:500 - 1:2000 IHC 1:50 - 1:200 |
Calculated MW | 45kDa |
Observed MW | Refer to Figures |
Immunogen | Recombinant protein of human HFE2 |
Storage Buffer | Store at -20℃. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
Synonym | JH; HJV; RGMC; HFE2A; |
The product of this gene 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. 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.
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