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. Author manuscript; available in PMC: 2015 Jun 13.
Published in final edited form as: Adv Exp Med Biol. 2014;844:201–225. doi: 10.1007/978-1-4939-2095-2_10

Table 10.2.

Genes involved in iron-related disorders

Disorder Genes Protein Protein function
Hemochromatosis HFE HFE Involved in transcriptional regulation of hepcidin
Hemochromatosis TfR2 Transferrin receptor 2 Holo-Tf sensor; at high Tf levels, HFE interaction with TfR2 is increased promoting hepcidin expression
Juvenile hemochromatosis HJV Hemojuvelin Involved in transcriptional regulation of hepcidin; BMP co-receptor
Juvenile hemochromatosis HAMP Hepcidin Modulates serum iron levels; regulates iron efflux by binding to the iron exporter ferroportin, triggering its internalization and degradation
Hemochromatosis (Hepcidin resistance) SLC40A1 Ferroportin Iron exporter
Aceruloplasminemia CP Ceruloplasmin Ferroxidase
Hypotransferrinemia TF Transferrin Glycoprotein with two binding sites for ferric iron
IRIDA TMPRSS6 Matriptase-2 Cleaves HJV, inactivates it and, consequently, inhibits production of hepcidin