HFE protein | definition of HFE protein by Medical dictionary
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A protein normally found intracellularly in duodenal crypt enterocytes and the placenta. It is closely associated with transferrin receptors for iron and regulates iron absorption. HFE is a homologue of class I major histocompatibility complex (MHC) molecules. The C2824 and H63D mutations on chromosome 6 in the HFE gene cause hemochromatosis.
References in periodicals archive
22) The HFE protein
plays a key, though not yet clearly defined, role in regulating the overall efficiency of intestinal iron absorption.
Association of HFE protein
with transferrin receptor in crypt enterocytes of human duodenum.
According to this widespread view, the HFE protein
linked to transferrin receptor 1 (TfR1) in the duodenal crypt stem cell is the sensor of total body iron, aimed at programming the expression of iron transporters in absorptive cells in the villi.
A single missense mutation, a G-to-A transition at nucleotide 845 that produces a cysteine-to-tyrosine substitution at position 282 (C282Y) in the HFE protein
, has been observed in the majority of HH patients, with frequencies ranging from 64% to 100% in different geographic areas.