|Other Names||Hemojuvelin, Hemochromatosis type 2 protein, RGM domain family member C, HFE2, HJV, RGMC|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. 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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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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