Cell membrane and Cytoplasm. Lacks the transmembrane domain. Probably intracellular.
Function
Mediates cellular uptake of transferrin-bound iron in a non-iron dependent manner. May be involved in iron metabolism, hepatocyte function and erythrocyte differentiation.
Disease Area
Defects in TFR2 are a cause of hemochromatosis type 3 (HFE3) [MIM:604250]. HFE3 is a disorder of iron hemostasis resulting in iron overload and has a phenotype indistinguishable from that of hereditary hemochromatosis (HH). HH is characterized by abnormal intestinal iron absorption and progressive increase of total body iron, which results in midlife in clinical complications including cirrhosis, cardiopathy, diabetes, endocrine dysfunctions, arthropathy, and susceptibility to liver cancer. Since the disease complications can be effectively prevented by regular phlebotomies, early diagnosis is most important to provide a normal life expectancy to the affected subjects.
Sequence Similarities
Belongs to the peptidase M28 family. M28B subfamily.
Storage & Handling
Storage
Store at 4°C. Do Not Freeze.
Storage Buffer
pH: 7.2
Constituent: PBS
Shipping
Shipped at 4°C
Form/Appearance
Liquid
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