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The protein encoded by this gene is an integral membrane protein that is similar to MHC class I-type proteins and associates with beta-2 microglobulin (beta2M). It is thought that this protein functions to regulate circulating iron uptake by regulating the interaction of the transferrin receptor with transferrin.
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 ...
This mutation is associated with diverse health issues, however H63D syndrome is the only known specific expression of a homozygous HFE-H63D mutation to date. The homozygous HFE-H63D mutation is the cause of classic and treatable hemochromatosis in only 6.7% of its carriers. [25] H63D syndrome is independently a distinct entity, and the ...
Majority of the cases of hemochromatosis are caused by mutations in the HFE (Homeostatic Iron Regulator) gene. [17] Type 3 HH is characterized by compound heterozygote mutations in both transferrin receptor 2 (TFR2) and HFE, i.e. a single mutation in each gene. HFE is located on chromosome 6 and TFR2 is located on chromosome 7.
HFE (gene), a gene that encodes the Human hemochromatosis protein; Hello from Earth, an interstellar radio message; Hidden Field Equations, a cryptosystem; H-parameter model (h FE), the current gain of a bipolar junction transistor; Human factors engineering; Hydrofluoroether, a solvent
These variants are considered silent, which means that they have no signs or symptoms. They usually affect the functionality and/or the stability of the hemoglobin molecule. With most of these variants are mutations in the alpha globin gene that result in an abnormally long alpha chain and an unstable hemoglobin molecules. [citation needed]
Sino-Vietnamese vocabulary (Vietnamese: từ Hán Việt, Chữ Hán: 詞漢越, literally 'Chinese-Vietnamese words') is a layer of about 3,000 monosyllabic morphemes of the Vietnamese language borrowed from Literary Chinese with consistent pronunciations based on Middle Chinese. Compounds using these morphemes are used extensively in cultural ...
Chữ Nôm (𡨸喃, IPA: [t͡ɕɨ˦ˀ˥ nom˧˧]) [5] is a logographic writing system formerly used to write the Vietnamese language.It uses Chinese characters to represent Sino-Vietnamese vocabulary and some native Vietnamese words, with other words represented by new characters created using a variety of methods, including phono-semantic compounds. [6]