HFE (gene)

Hereditary - hemochromatosis protein ( HLA -H) (gene name: HFE, high Iron Fe ) is a protein in the cell membrane of mammals, which binds to the transferrin receptor 2 and leads that the transferrin dissociates more easily from this is so bound weaker. This interaction is required for the induced by transferrin expression of hepcidin. The protein plays such a central role in iron metabolism.

In the human HLA -H is everywhere, formed except in the brain. Mutations in the HFE gene can lead to hereditary hemochromatosis, the most common recessive genetic disease in Caucasians, but also to variegate porphyria or an increased risk of diabetic nephropathy. Structurally, the protein is closely related to the MHC class I proteins.

Further Reading

  • Pantopoulos K: Function of the hemochromatosis protein HFE: Lessons from animal models. In: World J. Gastroenterol .. 14, No. 45, December 2008, pp. 6893-901. doi: 10.3748/wjg.14.6893. PMID 19058322 PMC: . 2773850 (Free full text ).
Protein isoform Human Genome Organisation Recessive trait Digital Object Identifier PubMed Central
371959
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