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HFE
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HFEOn this page:
Reviewed November 2006
What is the official name of the HFE gene?The official name of this gene is “hemochromatosis.” HFE is the gene's official symbol. The HFE gene is also known by other names, listed below. What is the normal function of the HFE gene?The HFE gene provides instructions for producing a protein that is located mainly on the surface of intestinal cells, liver cells, and some cells in the immune system. During digestion, this protein helps certain cells regulate the absorption of iron into the small intestine by interacting with other proteins located on the cell surface. The body uses this mechanism to help monitor its supply of iron. When the proteins involved in iron sensing and absorption are functioning properly, the body absorbs only about 10 percent of the iron ingested in the diet. Research suggests that the HFE protein also helps control levels of another important iron regulatory protein, hepcidin. Adequate levels of hepcidin are necessary to ensure that the body does not absorb and store too much iron in its tissues and organs. How are changes in the HFE gene related to health conditions?
Where is the HFE gene located?Cytogenetic Location: 6p21.3 Molecular Location on chromosome 6: base pairs 26,195,426 to 26,205,037 The HFE gene is located on the short (p) arm of chromosome 6 at position 21.3. More precisely, the HFE gene is located from base pair 26,195,426 to base pair 26,205,037 on chromosome 6. See How do geneticists indicate the location of a gene? in the Handbook. Where can I find additional information about HFE?You and your healthcare professional may find the following resources about HFE helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the HFE gene or gene products?
See How are genetic conditions and genes named? in the Handbook. Where can I find general information about genes?The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful. What glossary definitions help with understanding HFE?acids ; amino acid ; anemia ; antigens ; cell ; digestion ; gene ; GH ; HLA ; immune system ; intestine ; iron ; metabolism ; mutation ; protein ; receptor ; sign ; substitution ; symptom ; tissue ; transferrin ; tyrosine You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
References (14 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook. |