hemojuvelin (hemochromatosis type 2 protein, RGM domain family member C, HFE2, HJV, RGMC)

Function

• iron metabolism
• component of signaling pathway which activates hepcidin (HAMP)
• may cooperate with hepcidin to restrict iron absorption in the intestine
• modulator of hepcidin expression ?
• cellular receptor for hepcidin ?

Structure

• belongs to the repulsive guidance molecule family

Compartment

cell membrane, GPI-anchor

Alternative splicing

named isoforms=3

Expression

• expressed in adult & fetal liver, heart, skeletal muscle

Pathology

• defects in HFE2 are the cause of hemochromatosis type 2A
• deleterious mutations are associated with reduced hepcidin despite iron overload

More general terms

• repulsive guidance molecule (RGM) family (RGM domain family)

Database

• OMIM: https://mirror.omim.org/entry/602390
• OMIM: https://mirror.omim.org/entry/608374
• UniProt: http://www.uniprot.org/uniprot/Q6ZVN8.html