HFE2

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HFE2

Abbreviation for hemochromatosis type 2.

HFE2

A gene on chromosome 1q21.1 that encodes a protein which may be involved in iron metabolism, by activating the hepcidin signalling pathway, modulating hepcidin expression or acting as the hepcidin cell receptor.

Molecular pathology
HFE2 mutations are linked to hemochromatosis type 2A—e.g., juvenile hemochromatosis.