The gene that controls haemochromatosis (inherited iron overload disorder) has been identified and is known as HFE. eCollection 2014. Review. Genes Have the Instructions for Proteins. doi: 10.1097/MPH.0000000000000826. In order to have GH, a person must have inherited a mutated gene from both biological parents. HFE gene A gene on the short arm of chromosome 6 close to the HLA class I loci of the human major histocompatibility complex (MHC). Symptoms often begin after the age of 50, although early symptoms may be difficult to detect. HFE stands for High FErrum. [7], HFE expression is subjected to alternative splicing. 10.1016/j.gene.2015.10.009. Humans, like most animals, have no means to excrete excess iron, with the exception of menstruation which, for the average woman, results in a loss of 3.2 mg of iron. Penetrance of the mutations (phenotypic disease), including by individuals with compound heterozygous mutations, is While several different mutations to this gene have been discovered, there are two main mutations or faults that cause hereditary haemochromatosis. And human hemochromatosis protein is the tiny molecular machine that does all the actual iron level sensing. A gene called HFE is most often involved ("H" stands for hereditary or "high"; "Fe" is the chemical symbol for iron). The HFE protein interacts with other proteins on the cell surface to detect the amount of iron in the body. Users with questions about a personal health condition should consult with a qualified healthcare professional. Welcome to HFE (Health and Fitness Education), we are the UKs most popular and respected provider of fitness courses, training and qualifications. HFE gene: A gene on the short arm of chromosome 6 close to the HLA class I loci of the human major histocompatibility complex ( MHC ). Mutations in the HFE gene can increase the risk of developing a condition called porphyria. The most common HFE mutation is called "C282Y." The HFE gene is located on short arm of chromosome 6 at location 6p22.2 [5], 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). We selected most pathways HFE participated on our site, such as, which may be useful for your reference. Proc Phillips JD, Bergonia HA, Reilly CA, Franklin MR, Kushner JP. The HFE gene maps within the MHC region on chromosome 6p21.3 (Feder et al., 1996). Best Pract Res Clin As a result, iron regulation is disrupted, and too much iron is absorbed from the diet. 2014 Mar HFE was the only known gene associated with haemochromatosis but it is now known that there are other genetic associations. 2007 Mar 20;104(12):5079-84. KJ. When transferrin receptor 1 is bound to transferrin, iron enters liver cells. Three mutations in the HFE gene have been implicated. The HFE gene encodes the HFE protein which is sequestered by transferrin receptor 1 at the hepatocyte cell membrane to act as an iron sensing complex. Summaries for HFE gene (According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL) About This Section: Egger NG, Goeger DE, Payne DA, Miskovsky EP, Weinman SA, Anderson KE. Primary hemochromatosis is also sometimes called hereditary hemochromatosis, so Im sure you can guess that its caused by a gene mutation, and it is, specifically in the HFE gene, which stands for High F-E, or iron, which is located on chromosome 6; this guy More than a century after clinical and pathologic manifestations of hemochromatosis were reported ~90 % ) of HH from. Is tightly regulated majority of people with genetic haemochromatosis ):5079-84 century after clinical pathologic! 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