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A study of 3,011 unrelated white Australians found that 14% were heterozygous carriers of an HFE mutation, 0.5% were homozygous for an HFE mutation, and only 0.25% of the study population had clinically relevant iron overload. Most patients who are homozygous for HFE mutations do not manifest clinically relevant haemochromatosis (see Genetics ...
The HFE gene provides instructions for producing a protein that is located on the surface of cells, primarily liver and intestinal cells. The HFE protein is also found on some immune system cells. The HFE protein interacts with other proteins on the cell surface to detect the amount of iron in the body.
Human homeostatic iron regulator protein, also known as the HFE protein (High FE2+), is a transmembrane protein that in humans is encoded by the HFE gene. The HFE gene is located on short arm of chromosome 6 at location 6p22.2 [ 5 ]
HFE. The HFE H63D is a single-nucleotide polymorphism in the HFE gene (c.187C>G, rs1799945), which results in the substitution of a histidine for an aspartic acid at amino acid position 63 of the HFE protein (p.His63Asp). HFE participates in the regulation of iron absorption. [1] [2] [3]
Iron overload (also known as haemochromatosis or hemochromatosis) is the abnormal and increased accumulation of total iron in the body, leading to organ damage. [1] The primary mechanism of organ damage is oxidative stress, as elevated intracellular iron levels increase free radical formation via the Fenton reaction.
They are sometimes applied as blends such as HFE 7100, which is a mixture of methyl nonafluorobutyl ether (methoxyperfluorobutane) and methyl nonafluoroisobutyl ether. [ 2 ] 3M produces hydrofluoroether compounds under the names Novec 7000, 7100, 7200, 7300, 7500, and 7700 as liquid coolants for many applications including full immersion ...
Other names Hemochromatosis type 2 Juvenile hemochromatosis , also known as hemochromatosis type 2 , is a rare form of hereditary hemochromatosis , which emerges in young individuals, typically between 15 and 30 years of age, but occasionally later.
HFE may refer to: Science and technology. HFE (gene), a gene that encodes the Human hemochromatosis protein; Hello from Earth, an interstellar radio message;