Transferrin receptor 2 (TfR2) is a
protein that in humans is encoded by the TFR2gene.[5][6] This protein is involved in the uptake of
transferrin-bound iron into cells by
endocytosis, although its role is minor compared to
transferrin receptor 1.
Function
This gene is a member of the
transferrin receptor-like family and encodes a single-pass type II membrane protein with a protease associated (PA) domain, an M28 peptidase domain and a transferrin receptor-like dimerization domain. This protein mediates cellular uptake of transferrin-bound iron and mutations in this gene have been associated with hereditary
hemochromatosis type III. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized.[7]
Trinder D, Baker E (2003). "Transferrin receptor 2: a new molecule in iron metabolism". Int. J. Biochem. Cell Biol. 35 (3): 292–6.
doi:
10.1016/S1357-2725(02)00258-3.
PMID12531241.
Camaschella C, Roetto A, Calì A, et al. (2000). "The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22". Nat. Genet. 25 (1): 14–5.
doi:
10.1038/75534.
PMID10802645.
S2CID9227077.
Transferrin receptor 2 (TfR2) is a
protein that in humans is encoded by the TFR2gene.[5][6] This protein is involved in the uptake of
transferrin-bound iron into cells by
endocytosis, although its role is minor compared to
transferrin receptor 1.
Function
This gene is a member of the
transferrin receptor-like family and encodes a single-pass type II membrane protein with a protease associated (PA) domain, an M28 peptidase domain and a transferrin receptor-like dimerization domain. This protein mediates cellular uptake of transferrin-bound iron and mutations in this gene have been associated with hereditary
hemochromatosis type III. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized.[7]
Trinder D, Baker E (2003). "Transferrin receptor 2: a new molecule in iron metabolism". Int. J. Biochem. Cell Biol. 35 (3): 292–6.
doi:
10.1016/S1357-2725(02)00258-3.
PMID12531241.
Camaschella C, Roetto A, Calì A, et al. (2000). "The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22". Nat. Genet. 25 (1): 14–5.
doi:
10.1038/75534.
PMID10802645.
S2CID9227077.