Human hemochromatosis protein also known as the HFE protein is a protein which in humans is encoded by the HFE gene. The HFE gene is located on short arm of chromosome 6 at location 6p22.2. Unusually, the official gene symbol (HFE for High Iron Fe) is not an abbreviation of the official name (hemochromatosis).
The iron storage disorder hereditary hemochromatosis (HHC) is an autosomal recessive genetic disorder that usually results from defects in this gene.
The mutation or polymorphism most commonly associated with hemochromatosis is p. C282Y. About 1/200 of people of Northern European origin have two copies of this variant; they, particularly males, are at high risk of developing hemochromatosis.
^West, A P; Bennett M J; Sellers V M; Andrews N C; Enns C A; Bjorkman P J (December 2000). "Comparison of the interactions of transferrin receptor and transferrin receptor 2 with transferrin and the hereditary hemochromatosis protein HFE". J. Biol. Chem. (UNITED STATES) 275 (49): 38135–8. doi:10.1074/jbc.C000664200. ISSN0021-9258. PMID11027676.
Distante S (2006). "Genetic predisposition to iron overload: prevalence and phenotypic expression of hemochromatosis-associated HFE-C282Y gene mutation.". Scand. J. Clin. Lab. Invest.66 (2): 83–100. doi:10.1080/00365510500495616. PMID16537242.
Zamboni P, Gemmati D (2007). "Clinical implications of gene polymorphisms in venous leg ulcer: a model in tissue injury and reparative process.". Thromb. Haemost.98 (1): 131–7. doi:10.1160/th06-11-0625. PMID17598005.