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Rabbit Anti-TFR2/FITC Conjugated antibody
background:
Mediates cellular uptake of transferrin-bound iron in a non-iron dependent manner. May be involved in iron metabolism, hepatocyte function and erythrocyte differentiation.
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.
Subunit:
Homodimer.
Subcellular Location:
Cell membrane and Cytoplasm. Lacks the transmembrane domain. Probably intracellular.
Tissue Specificity:
Predominantly expressed in liver. While the alpha form is also expressed in spleen, lung, muscle, prostate and peripheral blood mononuclear cells, the beta form is expressed in all tissues tested, albeit weakly.
DISEASE:
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.
Similarity:
Belongs to the peptidase M28 family. M28B subfamily.
Database links:
Entrez Gene: 7036 Human
Entrez Gene: 50765 Mouse
Entrez Gene: 288562 Rat
Omim: 604720 Human
SwissProt: Q9UP52 Human
SwissProt: Q9JKX3 Mouse
SwissProt: B2GUY2 Rat
Unigene: 544932 Human
Unigene: 21757 Mouse
Unigene: 59926 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
Involvement in disease;Defects in TFR2 are a cause of hemochromatosis type 3 (HFE3) . 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.
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