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TFR2 Mediates cellular uptake of transferrin-bound iron in a non-iron dependent manner. May be involved in iron metabolism, hepatocyte function and erythrocyte differentiation. 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. Belongs to the peptidase M28 family. M28B subfamily. 3 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Membrane protein, integral; Receptor, misc.
Chromosomal Location of Human Ortholog: 7q22.1
Cellular Component: cytoplasmic vesicle; external side of plasma membrane; integral component of plasma membrane; plasma membrane
Molecular Function: protein binding; transferrin receptor activity
Biological Process: acute-phase response; cellular iron ion homeostasis; iron ion homeostasis; iron ion transport; positive regulation of endocytosis; positive regulation of transcription from RNA polymerase II promoter; receptor-mediated endocytosis; response to iron ion; transferrin transport
Disease: Hemochromatosis, Type 3
Reference #:  Q9UP52 (UniProtKB)
Alt. Names/Synonyms: HFE3; MGC126368; TFR2; TFRC2; transferrin receptor 2; Transferrin receptor protein 2
Gene Symbols: TFR2
Molecular weight: 88,755 Da
Basal Isoelectric point: 5.72  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

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