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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.
In medical genetics, compound heterozygosity is the condition of having two or more heterogeneous recessive alleles at a particular locus that can cause genetic disease in a heterozygous state; that is, an organism is a compound heterozygote when it has two recessive alleles for the same gene, but with those two alleles being different from each other (for example, both alleles might be ...
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
An experimental Wikipedia edition in the obsolete chữ Nôm script began in October 2006 at the Wikimedia Incubator. [6] It was deleted in April 2010. [7] [non-primary source needed] The Vietnam Wikimedians User Group supports the development of the Vietnamese Wikipedia and other Vietnamese-language Wikimedia projects.
Từ điển bách khoa Việt Nam (lit: Encyclopaedic Dictionary of Vietnam) is a state-sponsored Vietnamese-language encyclopedia that was first published in 1995. It has four volumes consisting of 40,000 entries, the final of which was published in 2005. [1] The encyclopedia was republished in 2011.