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  1. Wikipedia
    https://en.wikipedia.org/wiki/HFE_(gene)

    HFE (gene) - Wikipedia

    • Human homeostatic iron regulator protein, also known as the HFE protein (High FE2+), is a transmembrane protein that in humans is encoded by the HFE gene. The HFE gene is located on short arm of chromosome 6 at location 6p22.2 See more

    Function

    The protein encoded by this gene is an integral membrane protein that is similar to MHC class I-type proteins and … See more

    Clinical significance

    The iron storage disorder hereditary hemochromatosis (HHC) is an autosomal recessive genetic disorder that usually results from defects in this gene.
    The disease-causing genetic variant most commonly … See more

    Interactions

    The HFE protein interacts with the transferrin receptor TFRC. Its primary mode of action is the regulation of the iron storage hormone hepcidin. See more

    HFE gene - MedlinePlus
    The HFE gene provides instructions for producing a protein that is located on the surface of cells, primarily liver and intestinal cells. Learn about this gene and related health conditions.
    MedlinePlus · https://medlineplus.gov/genetics/…
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    Function
    Clinical significance
    Interactions
     
  1. Hereditary hemochromatosis
    • According to 2 sources
    A gene called HFE is most often the cause of hereditary hemochromatosis. You inherit one HFE gene from each of your parents.

    Hemochromatosis - Sympto…

    mayoclinic.org
    Hereditary hemochromatosis (HFE) is an autosomal recessive disorder of iron metabolism wherein the body accumulates excess iron. Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism.

    Entry - #235200 - HEMOCH…

    omim.org
  2. People also ask
    What does HFE stand for?
    "HFE Hemochromatosis". HFE-Associated Hereditary Hemochromatosis. University of Washington, Seattle. PMID 20301613. Archived from the original on 18 January 2017. Retrieved 25 May 2015. ^ Plaut D, McLellan W (2009). "Hereditary hemochromatosis". Journal of Continuing Education Topics & Issues. 11 (1). Archived from the original on 11 October 2016.

    Hereditary haemochromatosis - Wikipedia

    en.wikipedia.org
    Where is the HFE gene located?
    The HFE gene is located on short arm of chromosome 6 at location 6p22.2 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).

    HFE (gene) - Wikipedia

    en.wikipedia.org
    What is a working model of HFE mutation?
    A working model describes the defect in the HFE gene, where a mutation puts the intestinal absorption of iron into overdrive. Normally, HFE facilitates the binding of transferrin, which is iron's carrier protein in the blood.

    Hereditary haemochromatosis - Wikipedia

    en.wikipedia.org
    What is HFE hemochromatosis (HFE HC)?
    HFE HC has been described as bronze diabetes with cirrhosis, primary hemochromatosis, genetic hemochromatosis, hereditary hemochromatosis, and hemochromatosis type 1. The current term is HFE -related hemochromatosis (HFE HC) [Girelli et al 2022].

    HFE-Related Hemochromatosis - GeneReviews® - NCBI Bookshelf

    ncbi.nlm.nih.gov
    What happens if you have two mutations in the HFE gene?
    The HFE gene has two common mutations, C282Y and H63D. Genetic testing can reveal whether you have these changes in your HFE gene. If you inherit two altered genes, you may develop hemochromatosis. You also can pass the altered gene on to your children.

    Hemochromatosis - Symptoms and causes - Mayo Clinic

    mayoclinic.org
    Does HFE gene knockout produce mouse model of hereditary hemochromatosis?
    "HFE gene knockout produces mouse model of hereditary hemochromatosis". Proceedings of the National Academy of Sciences of the United States of America. 95 (5): 2492–2497. Bibcode: 1998PNAS...95.2492Z. doi: 10.1073/pnas.95.5.2492. PMC 19387. PMID 9482913. ^ Bahram S, Gilfillan S, Kühn LC, Moret R, Schulze JB, Lebeau A, et al. (November 1999).

    HFE (gene) - Wikipedia

    en.wikipedia.org
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  3. CDC
    https://www.cdc.gov/hereditary-hemo…

    About Hereditary Hemochromatosis - CDC

    May 15, 2024 · Hereditary hemochromatosis is most commonly caused by certain changes in a specific gene, called the HFE gene. If you inherit two of these genetic changes (mutations), one from each parent, you have hereditary …

    Tags:
    Iron overload
    Hemochromatosis Iron
    Hereditary Hemochromatosis
  4. AAFP
    https://www.aafp.org/pubs/afp/issues/2021/0900/p263.html

    Hereditary Hemochromatosis: Rapid Evidence Review | AAFP

    Tags:
    Iron overload
    Hemochromatosis Iron
    Hereditary Hemochromatosis Aafp
  5. National Center for Biotechnology Information
    https://www.ncbi.nlm.nih.gov/books/NBK1440

    HFE-Related Hemochromatosis - GeneReviews®

    Apr 3, 2000 · HFE-related hemochromatosis (HFE HC) is characterized by increased intestinal iron absorption and increased recycling of iron derived from senescent red blood cells.

    Tags:
    Hemochromatosis Iron
    Hfe Gene
    Hemochromatosis Gene Reviews
  6. Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/he...

    Hemochromatosis - Symptoms and causes - Mayo Clinic

  7. UpToDate
    https://www.uptodate.com/contents/hfe-and-other-he...

    HFE and other hemochromatosis genes - UpToDate

    Tags:
    Iron overload
    Hemochromatosis Iron
    Hereditary Hemochromatosis
  8. Wikipedia
    https://en.wikipedia.org/wiki/Hereditary_haemochromatosis

    Hereditary haemochromatosis - Wikipedia

    Tags:
    Hereditary Haemochromatosis
    Transferrin Saturation
  9. MedlinePlus
    https://medlineplus.gov/genetics/gene/hfe

    HFE gene - MedlinePlus

    The HFE gene provides instructions for producing a protein that is located on the surface of cells, primarily liver and intestinal cells. Learn about this gene and related health conditions.

    Tags:
    HFE Gene
    Genetics
  10. PubMed
    https://pubmed.ncbi.nlm.nih.gov/26456104

    HFE gene: Structure, function, mutations, and associated iron ...

    Tags:
    Iron overload
    Hfe Gene in Hemochromatosis
    Hfe Gene Function
  11. National Human Genome Research Institute | NHGRI
    https://www.genome.gov/Genetic-Disorders/...

    About Hemochromatosis - National Human Genome Research …

    Tags:
    Iron overload
    Hemochromatosis Iron
    Hfe Gene
    Hereditary Hemochromatosis