Hjv
Developmental stage
Expressed at low levels in somite derived structures. In the developing eye, marked the ocular musculature. Expressed in all differentiating muscles of the limb and the body wall, but not in migrating muscle precursor cells. Not detected in the nervous system, either at 9.5 dpc or at any stage later during development.
Function
Acts as a bone morphogenetic protein (BMP) coreceptor. Through enhancement of BMP signaling regulates hepcidin (HAMP) expression and regulates iron homeostasis.
Post-translational modifications
Autocatalytically cleaved at low pH; the two chains remain linked via two disulfide bonds. Also proteolytically processed by TMPRSS6, several fragments being released in the extracellular space; regulates HJV activity in BMP signaling and thefore iron homeostasis.
Sequence Similarities
Belongs to the repulsive guidance molecule (RGM) family.
Tissue Specificity
Muscle cell lineage.
Cellular localization
- Cell membrane
- Lipid-anchor
- GPI-anchor
- Also released in the extracellular space.
Alternative names
Hfe2, Rgmc, Hjv, Hemojuvelin, Hemochromatosis type 2 protein homolog, Hemojuvelin BMP coreceptor, RGM domain family member C