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The protein encoded by this gene is a membrane protein that is similar to MHC class I-type proteins and associates with beta2-microglobulin. It is thought that this protein functions to regulate iron absorption by regulating the interaction of the transferrin receptor with transferrin. The iron storage disorder, hereditary haemochromatosis, is a recessive genetic disorder that results from defects in this gene. At least nine alternatively spliced variants have been described for this gene. Additional variants have been found but their full-length nature has not been determined.
hemochromatosis; hereditary hemochromatosis protein; hereditary hemochromatosis protein HLA-H; hereditary hemochromatosis protein homolog; Hfe; HFE 1; HFE1; HH; high Fe; HLA H; HLAH; HLA-H; MGC:150812; MGC10379; MGC103790; MHC class I-like protein HFE; Mr2; MVCD7; RT1-CAFE; TFQTL2
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