HFE2

(redirected from haemojuvelin)

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 ?
There is some phenotypic variation with haemojuvelin, hepcidin or ferroportin mutations presenting at an earlier age.
This is a severe autosomal recessive condition, leading to early and profound overload with two subtypes--the first involving the hepcidin regulatory protein known as haemojuvelin.
Mutations in hepcidin (HAMP) and or haemojuvelin (HJV, also known as HFE2) genes are implicated in the disease process.