TFR2 dimer binds 2xholoTF

Stable Identifier
R-HSA-5691150
Type
Reaction [binding]
Species
Homo sapiens
Compartment
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Transferrin receptor 2 (TFR2) is highly expressed in liver and erythroid precursor cells and is a close homologue of human transferrin receptor 1 (TFRC). Transferrin (TF), loaded with iron (holoTF), transports two ferric iron ions through the blood. Two holoTFs bind to a TFR2 dimer (with lower affinity than to TFRC) and mediates cellular uptake of holoTF in a non-iron dependent manner (Kawabata et al. 1999, Trinder & Baker 2003). Defects in TFR2 can cause hemochromatosis 3 (HFE3; MIM:604250), an iron metabolism disorder characterised by iron overload. Excess iron is deposited over decades in a variety of organs leading to their failure, resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis and hypogonadotropic hypogonadism (Camaschella et al. 2000, Wallace & Subramaniam 2007).

Literature References
PubMed ID Title Journal Year
10802645 The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22

Camaschella, C, Roetto, A, Calì, A, De Gobbi, M, Garozzo, G, Carella, M, Majorano, N, Totaro, A, Gasparini, P

Nat. Genet. 2000
17729390 Non-HFE haemochromatosis

Wallace, DF, Subramaniam, VN

World J. Gastroenterol. 2007
12531241 Transferrin receptor 2: a new molecule in iron metabolism

Trinder, D, Baker, E

Int. J. Biochem. Cell Biol. 2003
10409623 Molecular cloning of transferrin receptor 2. A new member of the transferrin receptor-like family

Kawabata, H, Yang, R, Hirama, T, Vuong, PT, Kawano, S, Gombart, AF, Koeffler, HP

J. Biol. Chem. 1999
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