Synonyms: dJ221C16.10.1,Hemochromatosis,Hemochromatosis protein,Hereditary hemochromatosis protein,Hereditary hemochromatosis protein HLA H,HFE 1,HFE,HFE,HFE1,HH,High Fe,HLA H,HLA-H,HLAH,MGC:150812,MGC10379,MGC103790,MHC class I like protein HFE,MVCD7,TFQTL2
Background: The protein encoded by this gene is a membrane protein that is similar to MHC class I-type proteins and associates with beta2-microglobulin (beta2M). 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.