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.
Aliases : HH; HFE1; HLA-H; MVCD7; TFQTL2; MGC103790; dJ221C16.10.1
Entrez GeneID: 3077
Swissprot: Q30201
WB Predicted band size : 40kDa
Host/Isotype : Mouse IgG1
Species Reactivity: Human
Immunogen : Purified recombinant fragment of human HFE expressed in E. Coli.