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HFE 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.
Gene Name: | hemochromatosis |
Synonyms: | HFE, HFE1, HH, MHC class I-like protein HFE, Hemochromatosis, High Fe, MVCD7, HLA-H, HLAH, TFQTL2 |
Target Sequences: | NM_000410 NP_000401.1 Q30201 |
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