HJV
Function
Acts as a bone morphogenetic protein (BMP) coreceptor (PubMed:18976966). Through enhancement of BMP signaling regulates hepcidin (HAMP) expression and regulates iron homeostasis (PubMed:18976966).
Involvement in disease
Hemochromatosis 2A
HFE2A
A juvenile form of hemochromatosis, a disorder of iron metabolism with excess deposition of iron in a variety of organs leading to their failure, bronze skin pigmentation, hepatic cirrhosis, arthropathy and diabetes. The most common symptoms of juvenile hemochromatosis at presentation are hypogonadism and cardiomyopathy.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Autocatalytically cleaved at low pH; the two chains remain linked via two disulfide bonds (PubMed:25156943). Also proteolytically processed by TMPRSS6, several fragments being released in the extracellular space; regulates HJV activity in BMP signaling and thefore iron homeostasis (PubMed:18976966, PubMed:25156943).
Sequence Similarities
Belongs to the repulsive guidance molecule (RGM) family.
Tissue Specificity
Adult and fetal liver, heart, and skeletal muscle.
Cellular localization
- Cell membrane
- Lipid-anchor
- GPI-anchor
- Also released in the extracellular space.
Alternative names
HFE2, RGMC, HJV, Hemojuvelin, Hemochromatosis type 2 protein, Hemojuvelin BMP coreceptor, RGM domain family member C