HFE2

(redirected from hemochromatosis type 2)

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.
References in periodicals archive ?
10] Human genes: HFE, hemochromatosis; HFE2/HJV, hemochromatosis type 2 (juvenile); HAMP, hepcidin antimicrobial peptide; TFR2, transferrin receptor 2; FTL, ferritin, light polypeptide; SLC40A1, ferroportin.
Hemochromatosis Type 2 (also known as juvenile hemochromatosis) is an autosomal recessive disorder existing in two forms.
5] Human genes: HFE, hemochromatosis; HJV (alias, HFE2), hemochromatosis type 2 (juvenile); HAMP, hepcidin antimicrobial peptide (alias, LEAP-1); SMAD4, mothers against DPP homolog 4 (Drosophila); TfR2, transferrin receptor 2 (alias, HFE3); SLC40AI, solute carrier family 40 (iron-regulated transporter), member 1 (aliases, IREG1, FPN1, HFE4); FTL, L-ferritin; and SLCIIA2, solute carrier family 11 (proton-coupled divalent metal ion transporters), member 2 (aliases, DMT1, DCT1, and NRAMP2).