Alt. symbols: CD71 | TFR1 | p90

Approved name: transferrin receptor
Alt. names: transferrin receptor (p90, CD71)

Location: 3q29: 196012511 - 196082153 (-)
Gene type: protein_coding, 38 transcripts.

Scores: LoFtool: 0.531000 | pLI: 0.78032318 | LOEUF: 0.581

HGNC: 11763

NCBI: 7037, RefSeq: NG_046395.1

Ensembl: ENSG00000072274.14

LRG_ | Status: none

OMIM: 190010

Expression | ProteinAtlas

The TFRC gene encodes the transferrin receptor 1 (TfR1), a widely expressed heterodimeric type II membrane protein. The function of TfR1 is to bind transferrin (a protein that carries ferric iron in the blood) and transfer it inside the cells through a process of receptor-mediated endocytosis. Therefore, TfR1 function is essential for the regulation of iron metabolism, because it maintains proper intracellular iron levels, which is crucial for various biological processes. Iron is a key element for proper immune cell function.

The reported missense mutations in this gene cause defective TfR1 internalization and iron uptake, which thereby leads to increased expression of TfR1 on the cell surface. The expression mutant led to severely restricted B and T lymphocyte clonal diversity, impaired T cell activation and cytokine production, and defective mitochondrial oxidative phosphorylation in Th cells. The patient with the R22W mutation showed decreased circulating levels of NK, Treg, and MAIT cells, whereas low-density neu trophils were considerably expanded (PMID:38270687). [Load More]