HFE Protein
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HFE Protein
Human homeostatic iron regulator protein, also known as the HFE protein (High FE2+), 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 Function The protein encoded by this gene is a 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. The ''HFE'' gene contains 7 exons spanning 12 kb. The full-length transcript represents 6 exons. HFE protein is composed of 343 amino acids. There are several components, in sequence: a signal peptide (initial part of the protein), an extracellular transferrin receptor-binding region (α1 and α2), a portion that resembles immunoglobulin molecules (α3), a transmembrane region that anchors the protein in the cell membrane, and a short cytoplasmic tail ...
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Protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, responding to stimuli, providing structure to cells and organisms, and transporting molecules from one location to another. Proteins differ from one another primarily in their sequence of amino acids, which is dictated by the nucleotide sequence of their genes, and which usually results in protein folding into a specific 3D structure that determines its activity. A linear chain of amino acid residues is called a polypeptide. A protein contains at least one long polypeptide. Short polypeptides, containing less than 20–30 residues, are rarely considered to be proteins and are commonly called peptides. The individual amino acid residues are bonded together by peptide bonds and adjacent amino acid residues. The sequence of amino acid residue ...
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Wilson's Disease
Wilson's disease is a genetic disorder in which excess copper builds up in the body. Symptoms are typically related to the brain and liver. Liver-related symptoms include vomiting, weakness, fluid build up in the abdomen, swelling of the legs, yellowish skin and itchiness. Brain-related symptoms include tremors, muscle stiffness, trouble in speaking, personality changes, anxiety, and psychosis. Wilson's disease is caused by a mutation in the Wilson disease protein (''ATP7B'') gene. This protein transports excess copper into bile, where it is excreted in waste products. The condition is autosomal recessive; for a person to be affected, they must inherit a mutated copy of the gene from both parents. Diagnosis may be difficult and often involves a combination of blood tests, urine tests and a liver biopsy. Genetic testing may be used to screen family members of those affected. Wilson's disease is typically treated with dietary changes and medication. Dietary changes involve e ...
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HFE H63D Gene Mutation
HFE may refer to: * HFE (gene), a gene that encodes the Human hemochromatosis protein * H-parameter model (hFE), the current gain of a bipolar junction transistor * Health First Europe * Hefei Luogang International Airport, in Anhui, China, now defunct * Hefei Xinqiao International Airport, in Anhui, China * Hello from Earth, an interstellar radio message * Herschend Family Entertainment Corporation, an American entertainment company * Hertford East railway station, in England * Hidden Field Equations, a cryptosystem * Horizontal Fiscal Equalisation, in Australia * Human factors engineering * Hydrofluoroether Hydrofluoroethers (HFE) are a class of organic solvents. As non-ozone-depleting chemicals, they were developed originally as a replacement for CFCs, HFCs, HCFCs, and PFCs. They are typically colorless, odorless, tasteless, low toxicity, low visc ...
, a solvent {{disambiguation ...
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Black Rhinoceros
The black rhinoceros, black rhino or hook-lipped rhinoceros (''Diceros bicornis'') is a species of rhinoceros, native to eastern and southern Africa including Angola, Botswana, Kenya, Malawi, Mozambique, Namibia, South Africa, Eswatini, Tanzania, Zambia, and Zimbabwe. Although the rhinoceros is referred to as ''black'', its colours vary from brown to grey. The other African rhinoceros is the white rhinoceros (''Ceratotherium simum''). The word "white" in the name "white rhinoceros" is often said to be a misinterpretation of the Afrikaans word ' (Dutch ') meaning wide, referring to its square upper lip, as opposed to the pointed or hooked lip of the black rhinoceros. These species are now sometimes referred to as the square-lipped (for white) or hook-lipped (for black) rhinoceros. The species overall is classified as critically endangered (even though the south-western black rhinoceros is classified as near threatened). Three subspecies have been declared extinct, including the ...
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