Transferrinrezeptor-Gen

Last updated on: 13.07.2022

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DefinitionThis section has been translated automatically.

The transferrin receptor gene (cytogenetic location: 3q29) encodes a cell surface receptor required for cellular iron uptake via receptor-mediated endocytosis.

Circulating apotransferrin binds 2 Fe(3+) ions to holotransferrin, which binds to TFRC (Casey et al. 1988). The TFRC-holotransferrin complex is internalized by receptor-mediated endocytosis (see Jabara H H et al. 2016). An important paralog of this gene is TFR2.

General informationThis section has been translated automatically.

The transferrin receptor is required for erythropoiesis and neurological development. Several alternatively spliced variants have been identified.

The transferrin receptor consists of two identical subunits linked by a disulfide bridge. Each monomer has an 85 kD C-terminal component that can bind an iron-loaded transferrin molecule. A small fraction of transferrin receptors detach from the cell surface and can be measured as soluble transferrin receptor in blood.

Related metabolic pathways include vesicle-mediated transport and iron metabolism in the placenta.

A homozygous missense mutation in the TFRC gene (Y20H; 190010.0001) resulted in the clinical picture "immunodeficiency-46" in affected members of a large consanguineous Kuwaiti family (Jabara et al. 2016). The mutation results in increased surface expression of TFRC (up to 13-fold higher than controls) of lymphocytes and impaired internalization of TFRC in affected patients. Evidence suggests that inadequate iron uptake is the cause of impaired B- and T-cell activation in affected individuals. The results support the importance of TFRC for adaptive immunity.

LiteratureThis section has been translated automatically.

  1. Adriaansen H J et al (1990) Expression of the myeloid differentiation antigen CD33 depends on the presence of human chromosome 19 in human-mouse hybrids. Ann Hum Genet 54: 115-119.
  2. Casey J L et al (1988) Two genetic loci participate in the regulation by iron of the gene for the human transferrin receptor. Proc Nat Acad Sci 85: 1787-1791
  3. Elahi S et al (2013) Immunosuppressive CD71+ erythroid cells compromise neonatal host defense against infection. Nature 504: 158-162
  4. Enns CA et al (1982) Human transferrin receptor: expression of the receptor is assigned to chromosome 3. Proc Nat Acad Sci 79: 3241-3245.
  5. Jabara H H et al (2016) A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency. Nature Genet 48: 74-78.
  6. Radoshitzky SR et al (2007) Transferrin receptor 1 is a cellular receptor for New World haemorrhagic fever arenaviruses. Nature 446: 92-96.

Last updated on: 13.07.2022