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.
背景资料
Mediates cellular uptake of transferrin-bound iron in a non-iron dependent manner. May be involved in iron metabolism, hepatocyte function and erythrocyte differentiation.
产品应用
应用
已检合格种属
预测种属
推荐稀释比例
WB
Human
1:500-2000
IHC-P
Human
1:50-200
IHC-F
Human
1:50-200
IF
Human
1:50-200
交叉反应
交叉反应: Human
相关产品
暂无相关产品
靶标
基因名
TFR2
蛋白名
Transferrin receptor protein 2
亚基
Homodimer.
亚细胞定位
Cell membrane and Cytoplasm. Lacks the transmembrane domain. Probably intracellular.
组织特异性
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.
疾病
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.
相似性
Belongs to the peptidase M28 family. M28B subfamily.
功能
Mediates cellular uptake of transferrin-bound iron in a non-iron dependent manner. May be involved in iron metabolism, hepatocyte function and erythrocyte differentiation.