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Hemojuvelin : ウィキペディア英語版
Hemojuvelin

Hemojuvelin (HJV/RGMc/HFE2) is a membrane-bound and soluble protein in mammals that is responsible for the iron overload condition known as juvenile hemochromatosis in humans, a severe form of hemochromatosis. In humans, the hemojuvelin protein is encoded by the ''HFE2'' gene. HJV is also called RGMc, a member of a three gene family (in vertebrates) called the repulsive guidance molecules. Both RGMa and RGMb are found in the nervous system 〔 while RGMc is found in skeletal muscle and the liver.
== Function ==

For many years the signal transduction pathways that regulate systemic iron homeostasis have been unknown. However it has been demonstrated that hemojuvelin interacts with bone morphogenetic protein (BMP), possibly as a co-receptor, and may signal via the SMAD pathway to regulate hepcidin expression. Associations with BMP2 and BMP4 have been described.
Mouse HJV knock-out models confirmed that HJV is the gene responsible for juvenile hemochromatosis. Hepcidin levels in the liver are dramatically depressed in these knockout animals.
A soluble form of HJV may be a molecule that suppresses hepcidin expression.
RGMs may play inhibitory roles in prostate cancer by suppressing cell growth, adhesion, migration and invasion. RGMs can coordinate Smad-dependent and Smad-independent signalling of BMPs in prostate cancer and breast cancer cells. Furthermore, aberrant expression of RGMs was indicated in breast cancer. The perturbed expression was associated with disease progression and poor prognosis.

抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)
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