|Application ||WB, FC, E|
|Other Accession||Q8N7M5, Q7TQ32|
|Calculated MW||45080 Da|
|Antigen Region||308-338 aa|
|Other Names||Hemojuvelin, Hemochromatosis type 2 protein, RGM domain family member C, HFE2, HJV, RGMC|
|Target/Specificity||This HFE2 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 308-338 amino acids from the C-terminal region of human HFE2.|
|Format||Purified polyclonal antibody supplied in PBS with 0.09% (W/V) sodium azide. This antibody is purified through a protein A column, followed by peptide affinity purification.|
|Storage||Maintain refrigerated at 2-8°C for up to 2 weeks. For long term storage store at -20°C in small aliquots to prevent freeze-thaw cycles.|
|Precautions||HFE2 Antibody (C-term) is for research use only and not for use in diagnostic or therapeutic procedures.|
|Function||Acts as a bone morphogenetic protein (BMP) coreceptor. Through enhancement of BMP signaling regulates hepcidin (HAMP) expression and regulates iron homeostasis.|
|Cellular Location||Cell membrane; Lipid-anchor, GPI-anchor. Note=Also released in the extracellular space.|
|Tissue Location||Adult and fetal liver, heart, and skeletal muscle.|
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Provided below are standard protocols that you may find useful for product applications.
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. 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.
Zhu, X., et al. Genet. Epidemiol. 34(2):171-187(2010)
Barton, J.C., et al. Am. J. Hematol. 84(11):710-714(2009)
Zhang, A.S., et al. J. Biol. Chem. 284(34):22580-22589(2009)
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