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Reviewed July 2009
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.
Read more about gene names and symbols on the About page.
What is the normal function of the HFE gene?
The HFE gene provides instructions for producing a protein that is located on the surface of cells, primarily liver and intestinal cells. The HFE protein is also found on some immune system cells.
The HFE protein interacts with other proteins on the cell surface to detect the amount of iron in the body. The HFE protein regulates the production of another protein called hepcidin, which is considered the "master" iron regulatory hormone. Hepcidin is produced by the liver, and it determines how much iron is absorbed from the diet and released from storage sites in the body. When the proteins involved in iron sensing and absorption are functioning properly, iron absorption is tightly regulated. On average, the body absorbs about 10 percent of the iron obtained from the diet.
The HFE protein also interacts with two proteins called transferrin receptors; however, the role of these interactions in iron regulation is unclear.
Does the HFE gene share characteristics with other genes?
The HFE gene belongs to a family of genes called immunoglobulin superfamily, C1-set domain containing (immunoglobulin superfamily, C1-set domain containing).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.
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 26,087,280 to 26,096,116
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 26,087,280 to base pair 26,096,116 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 ; aspartic acid ; cell ; cysteine ; gene ; GH ; heme ; hemoglobin ; hereditary ; histidine ; HLA ; hormone ; immune system ; inherited ; iron ; molecule ; mutation ; oxygen ; protein ; toxic ; transferrin ; tyrosine
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (19 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.