GeneID: 179


Common Name: HFE Type: Gene
Chromosome: 6 (NC_000006.12) Locus: NG_008720.2 (HFE)
HUGO Symbol: HFE Full Name: hemochromatosis
Exons: 6 Introns: 5

The product of this gene participates in the regulation of iron metabolism. It is a non-classical major histocompatibility complex (MHC) class I molecule (that is, it does not present peptides to T cells) that interacts with β2-microglobulin, which functions to stabilize surface MHC class I molecules. The interaction of membrane proteins HFE, TFR2 (transferrin receptor) and HJV (hemojuvelin; a BMP co-receptor) in hepatocytes mediates the sensing of elevated iron-bound transferrin in blood plasma, followed by signalling to activate hepcidin production. Binding of HFE to the BMP receptor Alk3 prevents its ubiquitination and proteasomal degradation, thereby implicating the BMP/SMAD signalling pathway in the regulation of hepcidin transcription. Mutations of HFE lead to hereditary haemochromatosis.

Synonyms: HH , HFE1 , HLA-H , MVCD7 , TFQTL2


Sequence Viewer

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Publications / Origin

  1. Gao J, Chen J, Kramer M, Tsukamoto H, Zhang AS, Enns CA, Interaction of the hereditary hemochromatosis protein HFE with transferrin receptor 2 is required for transferrin-induced hepcidin expression., Cell Metab. , 9(3), 217-27, 2009 PubMed
  2. Turedi A, Oymak Y, Meşe T, Yaman Y, Bayraktaroglu S, Alpman A, Ozkinay F, Aydınok Y, Vergin C, The effect of HFE polymorphisms on cardiac iron overload in patients with beta-thalassemia major., Pediatr Hematol Oncol , 30(8), 755-60, 2013 PubMed
  3. Muckenthaler MU, How mutant HFE causes hereditary hemochromatosis., Blood , 124(8), 1212-3, 2014 PubMed
  4. Barton JC, Edwards CQ, Acton RT, HFE gene: Structure, function, mutations, and associated iron abnormalities., Gene , 574(2), 179-92, 2015 PubMed
  5. Enein AA, El Dessouky NA, Mohamed KS, Botros SK, Abd El Gawad MF, Hamdy M, Dyaa N, Frequency of Hereditary Hemochromatosis (HFE) Gene Mutations in Egyptian Beta Thalassemia Patients and its Relation to Iron Overload., Open Access Maced J Med Sci , 4(2), 226-31, 2016 PubMed
Created on 2016-10-06 09:29:12, Last reviewed on (Show full history)

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