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HFE

The protein encoded by this gene is a membrane protein that is similar to MHC class I-type proteins and associateswith beta2-microglobulin (beta2M). It is thought that this protein functions to regulate iron absorption byregulating the interaction of the transferrin receptor with transferrin. The iron storage disorder, hereditaryhaemochromatosis, is a recessive genetic disorder that results from defects in this gene. At least ninealternatively spliced variants have been described for this gene. Additional variants have been found but theirfull-length nature has not been determined. (provided by RefSeq, Jul 2008)

The protein encoded by this gene is a membrane protein that is similar to MHC class I-type proteins and associateswith beta2-microglobulin (beta2M)

It is thought that this protein functions to regulate iron absorption byregulating the interaction of the transferrin receptor with transferrin. The iron storage disorder, hereditaryhaemochromatosis, is a recessive genetic disorder that results from defects in this gene. At least ninealternatively spliced variants have been described for this gene. Additional variants have been found but theirfull-length nature has not been determined. (provided by RefSeq, Jul 2008)