HFE2(redirected from OTTHUMP00000218198)
Abbreviation for hemochromatosis type 2.
Farlex Partner Medical Dictionary © Farlex 2012
HFE2A 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.
HFE2 mutations are linked to hemochromatosis type 2A—e.g., juvenile hemochromatosis.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.